shared_genes_snps_contexts.tsv

gene	snp	context
ABCA1	Rs2297404	rs2297404, rs2230808, and rs2020927 haplotype (CAC) was more prevalent in the Alzheimers disease group (0.323 in AD vs. 0.202 in control). while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD).
ABCA1	Rs2230808	A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.
ABCA1	Rs2230806	Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects.
ABCA1	Rs4149268	G allele is associated with 0.82mg/dl increase in HDL cholesterol (good cholesterol).
ABCA1	Rs2020927	rs2297404, rs2230808, and rs2020927 haplotype (CAC) was more prevalent in the Alzheimers disease group (0.323 in AD vs. 0.202 in control). while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD) Effect of ABCA1 variant on atherogenic dyslipidaemia in patients with Type 2 diabetes treated with rosiglitazone.
ABCA1	Rs1883025	Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
ABCA1	Rs1800977	The -14C->T polymorphism rs1800977 of the ABCA1 gene was significantly associated with atherothrombotic cerebral infarction in a study of 3,400+ Japanese adults.
ABCA1	Rs2066714	Association of genetic variants with chronic kidney disease in Japanese individuals.
ABCA12	Rs28940268	This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
ABCA12	Rs28940269	This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
ABCA12	Rs28940270	This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
ABCA12	Rs28940271	This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
ABCA12	Rs28940568	This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
ABCA7	Rs7408475	Alzheimers disease polygenic hazard score.
ABCA7	Rs78117248	Sequencing of the ABCA7 gene in a Belgian cohort of 700+ patients with Alzheimers disease led to the association of the rare rs78117248 (G) allele with increased risk (odds ratio 2.07, CI: 1.31-3.27, p=0.0016).
ABCA7	Rs72973581	A sequencing study of 332 sporadic Alzheimers disease cases identified this ABCA7 coding variant, rs72973581 (A), also known as p.G215S, as conferring a modest but statistically significant protection against the disorder (OR 0.57, CI: 0.41-0.8, p = 0.024).
ABCA7	Rs113809142	rs113809142, also known as c.4416+2T>G, is one of several loss-of-function ABCA7 mutations associated with Alzheimers disease initially in Icelanders, and then replicated in other populations.Carriers of one rare rs113809142 (G) allele are at roughly more than twice the risk for developing late-onset Alzheimers disease compared to people having the most common genotype (T;T). the odds ratio is 4.47, p=3.4 × 10e−7.
ABCA7	Rs3764650	Alzheimers disease associated, based on large 2011 study The minor allele of rs3764650 in ABCA7 was associated with a later age at onset and shorter disease course according to /.
ABCA7	Rs200538373	rs200538373, also known as c.5570+5G>C, is one of several loss-of-function ABCA7 mutations associated with Alzheimers disease initially in Icelanders, and then replicated in other populations.Carriers of one rare rs200538373 (C) allele are at roughly twice the risk for developing late-onset Alzheimers disease compared to people having the most common genotype (G;G). the odds ratio is 1.91, p=3.8 × 10e−6.
ABCA7	Rs4147929	rs4147929 is a SNP in the ATP-binding cassette, sub-family A (ABC1), member 7 ABCA7 gene. rs4147929 has been reported in a large study (IGAP) to be associated with late onset Alzheimers disease.The risk allele (oriented to the dbSNP entry) is (A). the odds ratio associated with heterozygotes is 1.15 (CI 1.11-1.19),.
ABCB1	Rs2235067	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not. rs2235067 is one of 9 SNPs found within a tight linkage block (r<sup>2</sup> >= 0.8 ) such that the minor allele at any one of them predicts (with ~80%+ accuracy) that the other SNPs will also be the minor allele.
ABCB1	Rs7787082	A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs7787082	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs7787082	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not.
ABCB1	Rs3842	1.36; 95% confidence interval 95% CI, 1.06-1.76), especially in women (2.5x) rs212090 (A;T) (T;T) increased cancer susceptibility (OR, 1.37; 95% CI, 1.03-1.83).
ABCB1	Rs2235067	A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs2235067	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs2235040	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight - that they do not.A study of ~400 of German psychiatric inpatients with depression conducted in 2007 by Uhr et al.
ABCB1	Rs3842	rs3842 (A;G) and (G;G) was associated with increased risk of developing lung cancer (odds ratio OR.
ABCB1	Rs2032582	There appears to be little gene dosage effect, since homozygous rs2032582 (T;T) carriers shoulder almost all the risk (odds ratio 6.75 compared to (A;A) homozygotes, CI 3.0-15.2).
ABCB1	Rs12720067	A large (900 subjects) well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs12720067	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs12720067	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not.
ABCB1	Rs2235035	Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis.
ABCB1	Rs1128503	Association between the functional polymorphism (C3435T) of the gene encoding P-glycoprotein (ABCB1) and major depressive disorder in the Japanese population.
ABCB1	Rs1128503	ABCB1 (MDR1) gene polymorphisms are associated with the clinical response to paroxetine in patients with major depressive disorder.
ABCB1	Rs1045642	MDR1 C3435T polymorphism and cancer risk: a meta-analysis based on 39 case-control studies.
ABCB1	Rs10248420	Results for other ABCB1 SNPs.The 9 SNPs in the linkage block identified are : rs2235067 rs4148740 rs2032583 rs4148739 rs11983225 rs2235040 rs12720067 rs7787082 rs10248420 rs10248420 and rs2032583 associated with colonic disease Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.
ABCB4	Rs58238559	Aka c.523A>G (p.Thr175Ala) Based on a 2015 study of <100 patients, individuals carrying a rs58238559 (C) allele have a 3.75-fold increase in the probability of developing atrial fibrillation/flutter.
ABCB4	Rs45575636	This variant has been reported though to place a woman at between 2-fold to 16-fold higher risk for intrahepatic cholestasis of pregnancy, according to separate papers cited in OMIM 171060.0012.
ABCC2	Rs2273697	Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane.
ABCC2	Rs3740065	rs3740065 is a SNP in the ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ABCC2 gene.A study of 282 hormone receptor-positive, invasive breast cancer Japanese patients receiving tamoxifen found a significant association with shorter recurrence-free survival (p =.00017; hazard ratio 10.64, CI: 1.44 - 78.88) in rs3740065 (T;T) patients; the hazard ratio for carriers of one (T) allele was 3.5 (CI: 0.5-26).
ABCC2	Rs717620	Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.
ABCC6	Rs212077	A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia.
ABCC6	Rs63749796	Novel ABCC6 mutations in pseudoxanthoma elasticum.
ABCC6	Rs63749823	A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
ABCC8	Rs151344623	The risk of focal CHI is 1 in 540 per pregnancy in offspring of carrier fathers because there can be somatic loss of heterozygosity causing the focal form of the disease.
ABCC8	Rs151344624	The risk of focal CHI is 1 in 540 per pregnancy in offspring of carrier fathers because there can be somatic loss of heterozygosity causing the focal form of the disease.
ABCC8	Rs1048095	rs1048095, also known as L225P, Leu225Pro and 674T>C, is a rare variant in the ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ABCC8 gene.Heterozygous carriers for this SNP are reported to have permanent neonatal diabetes mellitus (PNDM).
ABCC8	I5008233	Familial Hyperinsulinism (ABCC8-related) /.
ABCC8	I5012556	Familial Hyperinsulinism (ABCC8-related) /.
ABCC8	I5012558	Familial Hyperinsulinism (ABCC8-related) /.
ABCC9	Rs4762865	In haplotype rs2900492 (G) - rs11046232 (A) - rs4148649 (A) - rs4762865 (A) associated with postural changes in blood pressure.
ABCC9	Rs2955503	Also in haplotype rs2900492 (A) - rs2955503 (A) associated with postural changes in blood pressure.
ABCC9	Rs2955503	rs2955503 (A) associated with postural changes in blood pressure.
ABCC9	Rs4148649	In haplotype rs2900492 (G) - rs11046232 (A) - rs4148649 (A) - rs4762865 (A) associated with postural changes in blood pressure.
ABCC9	Rs2900492	Also in haplotypes rs2900492 (A) - rs2955503 (A) and rs2900492 (G) - rs11046232 (A) - rs4148649 (A) - rs4762865 (A) associated with postural changes in blood pressure.
ABCC9	Rs2900492	rs2900492 (G) associated with postural changes in blood pressure.
ABCC9	Rs11046232	In haplotype rs2900492 (G) - rs11046232 (A) - rs4148649 (A) - rs4762865 (A) associated with postural changes in blood pressure.
ABCC9	Rs2955503	Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9.
ABCD1	Rs1057518721	Aka c.107C>A (p.Ser36Ter) Reported in ClinVar as associated with Chromosome Xq28 deletion syndrome; hemizygous mutation in the BCAP31 gene can lead to deafness, dystonia, and cerebral hypomyelination (DDCH).
ABCD1	Rs1131691743	Aka c.761C>T (p.Thr254Met) and c.761C>A (p.Thr254Lys), both of which are pathogenic for adrenoleukodystrophy according to the ALD Mutation Database.
ABCD1	Rs398123104	Aka c.1660C>A (p.Arg554Ser) Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD). however, this variant is not listed in the ALD Mutation Database.
ABCD1	Rs398123109	Aka c.31_46del16 (p.Arg11Serfs) Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD).
ABCG2	Rs3114018	rs3114018 (C), a variant in the ABCG2 gene, was the most significantly associated with gout in a 2017 study of ~200 Han Chinese patients (OR 3.19, CI:2.24–4.55, p=6.1x10e-11).
ABCG2	Rs3114018	This study also defined 5 haplotype blocks associated with gout.
ABCG2	Rs2231142	Among non-small cell lung cancer patients treated with gefitinib, theres a 4-5x higher risk of diarrhea for rs2231142 heterozygotes (and presumably minor allele homozygotes), based on a study of 124 patients treated with 250mg oral gefitinib once daily. rs2231142 also appears to influence the effectiveness of rosuvastatin.
ABCG2	Rs2231137	The (G) allele encodes the Val.In a study of incident ischemic stroke during 14 years of follow-up in a population-based study of older adults known as the Cardiovascular Health Study (CHS), rs2231137 was associated with stroke in both white (hazard ratio, 1.46, CI: 1.05 - 2.03) and black (hazard ratio, 3.59, CI, 1.11 - 11.6) participants.
ABCG2	Rs1481012	A gene-wide investigation on polymorphisms in the ABCG2/BRCP transporter and susceptibility to colorectal cancer.
ABCG2	Rs2231137	The risk of ischemic stroke was higher in Val allele homozygotes than in Met allele carriers.
ABCG8	Rs11887534	Up to 10% of the population attributable risk for gallstones may be accounted for by this SNP.
ABCG8	Rs41360247	rs41360247 increases susceptibility to Gallstone disease 2.30 times for carriers of the C allele.
ABCG8	Rs6756629	DeCode reports that the G allele is associated with a lower risk of gallstone disease (cholelithiasis).
ABO	Rs574347	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.
ABO	Rs8176749	This SNP is in the ABO gene, and is therefore potentially useful in determing ABO blood group, such as through the use of genosets.
ABO	Rs8176747	This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.ABO Blood Type.
ABO	Rs8176746	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.23andMe reports this as a G/T while decodeme reports it as an A/C.
ABO	Rs8176743	This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.ABO Blood Type.
ABO	Rs8176741	This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.
ABO	Rs8176740	Influences ABO blood groupABO Blood Type.
ABO	Rs8176719	A person who is rs8176719 (G;G) is likely to be of blood type A, B, or AB, but due to the existence of (rare) nonfunctional O alleles brought about by (nondeletional) mutations at other positions than rs8176719, they could at least theoretically still be phenotyped as type O.The determination of blood group types A, B, and AB through SNP analysis is reflected in the appropriate genosets.
ABO	Rs8176694	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.
ABO	Rs7853989	This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.ABO Blood Type.
ABO	Rs657152	Genetic variants associated with Von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip.
ABO	Rs507666	The novel association at the ABO locus provides evidence for a previously unknown regulatory role of histo-blood group antigens in inflammatory adhesion processes.
ABO	Rs512770	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.
ABO	Rs8176750	This particular SNP can be useful in determining whether an ABO type A allele is more specifically an A1 type allele or an A2 type allele.The more common allele (80% of A types on average) is A1, consistent with having a rs8176750 (C) allele, with the rarer A2 allele encoded by the deletion form rs8176750 (-).
ABO	Rs505922	/ 23andMe blog each copy rs505922 (C) is associated with 1.2x risk of pancreatic cancerinfluences ABO blood group.
ABO	Rs500498	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.
ABO	Rs41302905	May influence ABO blood group see gs129ABO Blood Type.
ABO	Rs2073828	This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets.
ABO	Rs2073824	This SNP is in the ABO gene, and is therefore potentially useful in determing ABO blood group, such as through the use of genosets.
ABO	Rs1053878	Influences ABO blood group; cis-AB phenotype is associated with rs1053878 (T) ABO Blood Type.
ABO	Rs1008708453	The rs1008708453 (A) allele, as represented in dbSNP (and SNPedia) on the forward/plus strand, is reported to be completely correlated to a subtype of O type alleles known as the O2 group.
ABO	I4000505	Influences ABO blood groupABO Blood Type.
ABO	I4000504	Influences ABO blood groupABO Blood Type.
ABO	Rs56392308	rs56392308 is a SNP for the A2 ABO blood group according to the List of targets and recommended controls for prediction of certain RBC antigens in the Consortium for Blood Group Genes (CBGG) : 2009 report.The A2 allele (a minor subtype of A) is associated with rs56392308 (-), the deletion allele.
ACADM	Rs200724875	Aka c.617G>A (p.Arg206His) 23andMe name: i5012761.
ACADM	Rs121434280	Aka c.199T>C, p.Tyr67His), Y67H (and in older literature, Y42H or Tyr42His) According to a paper cited in OMIM, the Y42H mutation is relatively mild as ACADM mutations go, and may be a temperature-sensitive mutation, which its most deleterious effects only at increased temperatures.
ACADM	I5003116	Medium-Chain Acyl-CoA Dehydrogenase Deficiency rs121434282.
ACADM	I5003117	Medium-Chain Acyl-CoA Dehydrogenase Deficiency rs121434281.
ACADVL	Rs113994167	Aka c.848T>C (p.Val283Ala or V283A) See ACADVL; this variant is considered one of the most prevalent mutations associated with VLCAD deficiency.
ACADVL	Rs140629318	Aka c.637G>A (p.Ala213Thr or A213T) as well as c.637G>C (p.Ala213Pro A213P) While consensus in ClinVar and other databases leans toward both being pathogenic very long chain acyl-CoA dehydrogenase deficiency mutations, there is some uncertainty over this, and some submitters prefer to consider both as variants of uncertain significance.
ACAT1	Rs3741049	Yasko Methylation|Yasko believes it will cause an increase in gut bugs (particularly clostridia) as well as elevated fatty acid metabolites.This is one of the SNPs reported by NutraHacker SNPs|NutraHacker.
ACAT1	Rs779565865	Aka NM_000019.3 (ACAT1) :c.149delC or (p.Thr50Asnfs) OMIM pathogenic variant.
ACE	Rs4359	This SNP in the ACE gene, also known as C17888T, is reported to influence how quickly African Americans respond to the anti-hypertensive drug ramipril.
ACE	Rs4353	An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
ACE	Rs4340	(I;I) homozygotes are are higher risk for early-onset psoriasis, with an odds ratio of 1.88 (CI: 1.12-3.15, p=0.016).
ACE	Rs4311	The risk allele T may be associated with about 1.2x increased risk of diabetic nephropathy.
ACE	Rs4343	More specifically: the rs4343 (A) allele is associated with the ACE-I (insertion) allele, and the rs4343 (G) allele is associated with the ACE-D allele.Another SNP in linkage disequilibrium with the ACE I/D polymorphism is rs4341., A haplotype of rs4311, rs4343, rs699 increases risk of diabetic nephropathy 4x.
ACE	Rs1799752	(I;I) homozygotes are are higher risk for early-onset psoriasis, with an odds ratio of 1.88 (CI: 1.12-3.15, p=0.016)./ 23andMe blog snp puts women with migraines at higher risk for cardiovascular disease This is flatly contradicted by, which in a study of 4,577 women over 12 years found no association between rs1799752 and migraine or migraine aura status.According to a table published by the Alzheimer Research Forum, this SNP may be associated with susceptibility to Alzheimers disease.
ACE	Rs13447447	Examples: (I;I) homozygotes respond better to Viagra than (D;I) or (D;D) individuals, in a study of 100+ Caucasian men with erectile dysfunction.
ACE	Rs12449782	The G allele is associated with a slightly increased risk of diabetic nephropathy.
ACE	Rs4293	This SNP in the antiotensin I converting enzyme (ACE) gene may be associated with a higher risk of Alzheimers disease.
ACKR1	Rs12075	This SNP encodes the major co-dominant alleles of the Duffy blood group antigen system (Fy).The rs12075 (G) allele encodes Gly42, which is the Fy (a) antigen.
ACKR1	Rs2814778	Additionally the Namibian San samples of the CEPH-HGDP are, uncharacteristically for Africans, all AA homozygotes for this SNP.The rs2814778 (G) allele is associated with African populations, while rs2814778 (A) is associated with European populations and southwestern Native American populations.
ACTA2	Rs121434528	Strokes or ministrokes (transient ischemic attacks) are often the first symptoms of the condition.
ACTA2	Rs1926203	Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk.
ACTC1	Rs193922680	rs193922680, also known as c.301G>A, p.Glu101Lys and E101K, is a rare mutation in the ACTC1 gene on chromosome 15.Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.See OMIM 102540.0009.
ACTG1	Rs28999111	Deafness.
ACTG1	Rs28999112	Deafness.
ACTN1	Rs117672662	Said to be an Amerindian-specific variant in. specifically, the allele frequency for the minor (C) allele is around 7% in many South American populations but is either undetected or under 1% in Asian, European and African populations.
ACTN3	Rs1815739	ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.
ACTN4	Rs121908416	Focal segmental glomerulosclerosisCalled i5900586 by 23andMe.
ACTN4	Rs121908417	Focal segmental glomerulosclerosisCalled i5900587 by 23andMe.
ACTN4	Rs121908415	Focal segmental glomerulosclerosisCalled i5900585 by 23andMe.
ADA	Rs121908738	Hot spot mutations in adenosine deaminase deficiency.
ADA	Rs121908739	Hot spot mutations in adenosine deaminase deficiency.
ADA	Rs121908735	Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
ADA	Rs121908736	Hot spot mutations in adenosine deaminase deficiency.
ADAM10	Rs61751103	The rs61751103 (G) allele was found in 11 of 16 individuals affected by Alzheimers disease (average onset age 69.5 years) from seven late-onset AD families.
ADAM10	Rs145518263	The rs145518263 (C) allele was found in 11 of 16 individuals affected by Alzheimers disease (average onset age 69.5 years) from seven late-onset AD families.
ADAM10	I6006817	rs145518263 Alzheimers disease assocation.
ADAM10	I6006818	rs61751103 Alzheimers disease assocation.
ADAMTS13	Rs28647808	rs28647808 (G) carriers) left untreated had about a 50% higher risk for renal complications (i.e.
ADCY3	Rs541941351	It has been reported as potentially causing obesity when inherited recessively, but heterozygotes may be affected to a lesser degree, if this variant is driving related GWAS findings.Be aware of orientation & ambiguous flip issues due to the A/T nature of this variant and the reverse orientation of the gene.
ADCY5	Rs11708067	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
ADCY5	Rs796065306	See the discussion at ADCY5.Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant familial dyskinesia, with facial myokymia.See also OMIM 600293.0001.
ADH1B	Rs1229984	Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects.
ADH1B	Rs6413413	On its own, this SNP is said to explain 2.5% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211genoset.Note that the effects of alcohol are higher in individuals who break down (basically, detoxify) ethanol more slowly.
ADH1C	Rs1693482	A study of 575 Irish alcoholics observed an association between rs1693482 and risk for alcohol dependence.On its own, this SNP is also said to explain 8.4% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211genoset.Note that the effects of alcohol are higher in individuals who break down (basically, detoxify) ethanol more slowly.
ADH1C	Rs283411	ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.
ADH1C	Rs283413	More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211 genoset.
ADH1C	Rs28730619	Genetic variation in GSNOR and childhood asthma.
ADH1C	Rs698	On its own, this SNP is said to explain 12.3% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211genoset.Note that the effects of alcohol are higher in individuals who break down (basically, detoxify) ethanol more slowly.
ADIPOQ	Rs182052	Association of the adiponectin gene variations with risk of ischemic stroke in a Korean population.
ADIPOQ	Rs182052	Association of adiponectin gene variations with risk of incident myocardial infarction and ischemic stroke: a nested case-control study.
ADIPOQ	Rs822395	Association of ADIPOQ gene polymorphisms and coronary artery disease risk: a meta-analysis based on 12 465 subjects.
ADIPOQ	Rs1501299	After categorizing individuals by adiponectin signaling status, this study found that compared with low signalers (the most frequent), intermediate signalers had a 0.64x decrease in breast cancer risk (CI: 0.49–0.83), and high signalers had a 0.15x lower breast cancer risk (CI: 0.02–1.28, p (trend) = 0.001).Adiponectin signaling status was assigned as follows (as oriented in dbSNP) : rs1501299 (C,C) + rs2241766 (T,T) = low signaler<br> rs1501299 (A,C) + rs2241766 (T,T) = low signaler<br> rs1501299 (C,C) + rs2241766 (G,T) = low signaler<br> rs1501299 (A,A) + rs2241766 (T,T) = intermediate signaler<br> rs1501299 (A,C) + rs2241766 (G,T) = intermediate signaler<br> rs1501299 (C,C) + rs2241766 (G,G) = intermediate signaler<br> rs1501299 (A,C) + rs2241766 (G,G) = high signaler<br> rs1501299 (A,A) + rs2241766 (G,G) = high signaler<br> rs1501299 (A,A) + rs2241766 (G,T) = high signaler<br>Based on these criteria, adiponectin signaling status is now determined by genosets Gs325 and Gs326 for Promethease users.Note that adiponectin, a hormone produced by adipose tissue (body fat), is involved in lipid metabolism as well as glucose regulation.In other words, you are a low adiponectin signaler, and thus have basically average breast cancer risk, if you have one of these combinations of alleles: rs1501299 CC and also rs2241766 either GT or TT rs1501299 AC and also rs2241766 TTYou are an intermediate adiponectin signaler (Gs325), and thus possibly at 0.64x reduced risk of breast cancer compared to low signallers, if you have one of these combinations of alleles: rs1501299 CC and also rs2241766 GG rs1501299 AC and also rs2241766 GT rs1501299 AA and also rs2241766 TTYou are a high adiponectin signaler (Gs326), and thus have the lowest (perhaps 0.15x) risk if you have one of these combinations of alleles: rs1501299 AC and also rs2241766 GG rs1501299 AA and also rs2241766 either GG or GTThis is one of the SNPs reported by NutraHacker SNPs|NutraHacker.
ADIPOQ	Rs1501299	It is perhaps the most studied of the common ADIPOQ gene variants; most studies report that the less common rs1501299 (A) allele, as oriented in dbSNP, is associated with decreased cancer risk compared with the more common (C) allele.A study of 733 breast cancer cases for 10 SNPs concluded that the rs1501299 (C;C) genotype (in dbSNP orientation) was at increased risk (odds ratio 1.80, CI: 1.14 - 2.85).
ADIPOQ	Rs822396	Association of adiponectin gene variations with risk of incident myocardial infarction and ischemic stroke: a nested case-control study.
ADIPOQ	Rs17300539	rs17300539, also known as -11391 G/A, is a SNP in the promoter of the adiponectin ADIPOQ gene.A small study of 180 Spanish patients with obesity concluded that rs17300539 (G;G) individuals are at increased risk of insulin resistance and MetS complications compared to carriers of an (A) allele.
ADIPOQ	Rs822396	Association of the adiponectin gene variations with risk of ischemic stroke in a Korean population.
ADRB1	Rs1801252	This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP.
ADRB1	Rs1801253	This risk was specifically for myocardial infarction, and was only seen in women without obstructive coronary artery disease.Other press releases or articles include: Alters response to heart failure drugs bisoprolol, metoprolol, and carvedilol This press release provides a helpful summary of the PMID 16844790| research paper.
ADRB2	Rs1042713	This may therefore indicate that regular inhalant use may be counter-productive in young asthma patients carrying one or especially two rs1042713 (A) alleles.
ADRB2	Rs1042714	In a study of 342 patients with type-2 diabetes, the rs1042714 (G;G) genotype was associated with reduced risk compared to carriers of a rs1042714 (C) allele, with an odds ratio of 0.56 (CI: 0.36-0.91).A study of 294 Italian ischemic stroke patients found increased risk associated with the rs1042714 (G;G) genotype, with an odds ratio of 1.68 (CI: 1.17-2.41, p=0.005).A large study of almost 8,000 patients found no consistent evidence for association with obesity, type-2 diabetes or hypertension, however, there was some association between the rs1042714 (G) allele and systolic blood pressure.Among 215 adults treated with topical beta-blockers to reduce intraocular pressure (IOP), rs1042714 (C;C) genotypes were significantly more likely to experience a (desirable) IOP decrease of 20% or more (odds ratio 2.00, CI: 1.00-4.02).
ADRB3	Rs4994	This risk was due to subtle increases in risk for all of the individual endpoints, and was only seen in women without obstructive coronary artery disease.Response to Diet and Exercise.
AFG3L2	Rs151344523	Aka c.2105G>A (p.Arg702Gln or R702Q) Considered in ClinVar to be a dominant mutation leading to spinocerebellar ataxia-28.
AGT	Rs4762	A systematic meta-analysis of genetic association studies for diabetic retinopathy.
AGT	Rs5051	rs5051 (T) is associated with higher plasma angiotensinogen levels, and therefore the increased risk of essential hypertension.
AGT	Rs5050	An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
AGT	Rs3889728	rs3889728 is a SNP in the AGT gene that, at least when part of a haplotype, has been associated with increased risk for developing pre-eclampsia, but it was not reported to have the most influence of the 3 SNPs in the haplotype.
AGT	Rs387906578	See OMIM 106150.0005.
AGT	Rs121912702	See OMIM 106150.0004.
AGTR1	Rs5182	Among 4,096 hypertensive subjects, the CT/CC genotypes were associated with reduced risk of heart attack among those treated with ACE inhibitors.
AGXT	Rs111996685	AGXT c.680+1G>A and c.680+1G>C (both are pathogenic according to ClinVar).
AHCY	Rs6058017	Influences appearance gnxp.
AHCY	Rs819134	AdoHcy hydrolysis serves not only to sustain the flux of methionine sulfur toward cysteine, but is believed also to play a critical role in the regulation of biologic methylations.
AHCY	Rs819147	AdoHcy hydrolysis serves not only to sustain the flux of methionine sulfur toward cysteine, but is believed also to play a critical role in the regulation of biologic methylations.This is one of the SNPs reported by NutraHacker SNPs|NutraHacker.
AHCY	Rs819171	AdoHcy hydrolysis serves not only to sustain the flux of methionine sulfur toward cysteine, but is believed also to play a critical role in the regulation of biologic methylations.This is one of the SNPs reported by NutraHacker SNPs|NutraHacker.
AHSG	Rs2077119	rs2077119, also known as -469T/G, is a SNP in the alpha-2-HS-glycoprotein AHSG gene.In a study of ~3,800 Danish type-2 diabetes patients, pooled with a previous study, the minor rs2077119 (G) allele showed a slight protective effect, with an odds ratio of 0.91 (CI: 0.84-0.99, p=0.007).
AHSG	Rs2248690	Are AHSG polymorphisms directly associated with coronary atherosclerosis?.
AHSG	Rs2518136	Associated with type-2 diabetes in a study of Danish (but apparently not Swedish or French) Caucasians.
AHSG	Rs2593813	Category:is a snp Homozygosity for the rs2593813 :G- rs4917 :Met- rs4918 :Ser haplotype conferred an increased risk for leanness AHSG gene variant is associated with leanness among Swedish men.
AHSG	Rs4917	Link2 Homozygosity for the rs2593813 :G- rs4917 :Met- rs4918 :Ser haplotype conferred an increased risk for leanness (odds ratio=1.90, P=0.027).
AIPL1	Rs62637014	Aka c.834G>A (p.Trp278Ter or W278X) This recessively inherited mutation is considered the most common AIPL1 variant leading to Leber congenital amaurosis type 4 (LCA4).
AKT1	Rs2494732	rs2494732 (C;C) individuals with a history of cannabis use had an increased likelihood of a psychotic disorder (odds ratio 2.18, CI: 1.1 - 4.3) when compared with users who were (T;T) carriers.
AKT1	Rs3730358	AKT1 polymorphisms and survival of early stage non-small cell lung cancer.
AKT1	Rs2494732	A case-control study of 489 first-episode psychosis patients concluded that while rs2494732 was not associated with an increased risk of a psychotic disorder, with lifetime cannabis use, or with frequency of use, there was a significant association between psychosis and cannabis use.
ALB	Rs79744198	Point substitutions in Japanese alloalbumins.
ALB	Rs78340021	Novel nonsense mutation causes analbuminemia in a Moroccan family.
ALB	Rs79228041	Amino acid substitution in two identical inherited human serum albumin variants: albumin Oliphant and albumin Ann Arbor.
ALB	Rs78784172	Analbuminemia produced by a novel splicing mutation.
ALB	Rs77514449	Structural characterization of three genetic variants of human serum albumin modified in subdomains IIB and IIIA.
ALB	Rs1800580	Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.
ALB	Rs76593094	Point substitutions in Japanese alloalbumins.
ALB	Rs76483862	Point substitutions in Japanese alloalbumins.
ALB	Rs75152012	Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
ALB	Rs77050410	Mutations in genetic variants of human serum albumin found in Italy.
ALDH2	Rs16941667	Aldehyde dehydrogenase variation enhances effect of pesticides associated with Parkinsons disease.
ALDH2	Rs16941669	Aldehyde dehydrogenase variation enhances effect of pesticides associated with Parkinsons disease.
ALDH2	Rs671	rs671 is a classic SNP, well known in a sense through the phenomena known as the alcohol flush, also known as the Asian Flush or Asian blush, in which certain individuals, often of Asian descent, have their face, neck and sometimes shoulders turn red after drinking alcohol.The rs671 (A) allele of the ALDH2 gene is the culprit, in that it encodes a form of the aldehyde dehydrogenase 2 protein that is defective at metabolizing alcohol.
ALDH2	Rs968529	Aldehyde dehydrogenase variation enhances effect of pesticides associated with Parkinsons disease.
ALDH3A2	Rs72547571	rs72547571, also known as c.943C>T, P315S or p.Pro315Ser, is a mutation in the fatty aldehyde dehydrogenase ALDH3A2 gene.Inherited as an autosomal recessive, two copies of the risk allele rs72547571 (T), or one copy plus another defective ALDH3A2 allele, leads to Sjogren-Larsson syndrome.
ALDH3A2	Rs1800870	Genetic variation in interleukin-10 gene and risk of oral cancer.
ALDH5A1	Rs2760118	Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
ALDH5A1	Rs2760118	Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
ALDH5A1	Rs3765310	Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
ALDH7A1	Rs121912707	Aka c.1279G>C (p.Glu427Gln or E427Q). also reported as p.Glu399Gln or E399QThis mutation is reported to be among the most common ALDH7A1 gene mutations, which when recessively inherited may lead to pyridoxine-dependent epilepsy.
ALDH7A1	Rs121912708	Aka c.328C>T (p.Arg110Ter).
ALDH7A1	Rs864622557	Aka c.1193G>T (p.Gly398Val) 23andMe name: i709033.
ALDOB	Rs1800546	Cross, N. C. P., de Franchis, R., Sebastio, G., Dazzo, C., Tolan, D. R., Gregori, C., Odievre, M., Vidailhet, M., Romano, V., Mascali, G., Romano, C., Musumeci, S., Steinmann, B., Gitzelmann, R., Cox, T. M. Molecular analysis of aldolase B genes in hereditary fructose intolerance.
ALDOB	I5012665	Hereditary fructose intolerance rs387906225.
ALDOB	Rs76917243	Aka c.524C>A (p.Ala175Asp or A175D; sometimes Ala174Asp in older literature). usually considered the second most common ALDOB gene mutation after the most common one, rs1800546.
ALDOB	I5012663	rs1800546 hereditary fructosuria.
ALDOB	I5008215	Hereditary Fructose Intolerance rs76917243.
ALDOB	I5012664	Hereditary Fructose Intolerance rs78340951.
ALOX5AP	Rs9551963	5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia.
ALOX5AP	Rs9315050	rs9315050, also known as SG13S41, is an ALOX5AP gene SNP that has been defined as part of a haplotype potentially associated with risk for myocardial infarction or ischemic stroke.
ALOX5AP	Rs4076128	Among women consuming </=17.4 g/d of linoleic acid, there was no association with breast cancer risk.
ALOX5AP	Rs4769874	rs4769874, also known as SG13S89, is an ALOX5AP gene SNP that has been defined as part of a haplotype potentially associated with risk for myocardial infarction or ischemic stroke.
ALOX5AP	Rs17222842	rs17222842, also known as SG13S35, is an ALOX5AP gene SNP that has been defined as part of a haplotype potentially associated with risk for myocardial infarction or ischemic stroke.
ALOX5AP	Rs17222814	rs17222814, also known as SG13S25, is an ALOX5AP gene SNP that has been defined as part of a haplotype potentially associated with risk for myocardial infarction or ischemic stroke.
ALOX5AP	Rs10507391	Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.
ALOX5AP	Rs4076128	Based on a mixed-ethnicity study, women consuming a diet high in linoleic acid (top quartile of intake, >17.4 g/d) and carrying the rs4076128 (A;A) genotype were associated with higher breast cancer risk (age- and race-adjusted odds ratio, 1.8, CI: 1.2-2.9) compared with (A;G) and (G;G) genotypes.
ALPL	I6006953	I6006953, also known as c.1363G>A or p.G455S, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.
ALPL	I6006946	I6006946, also known as c.346G>A or p.A116T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.
ALPL	I6006933	I6006933, also known as c.931G>A or p.E311K, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006948	I6006948, also known as c.529G>A or p.A177T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.
ALPL	I6006951	I6006951, also known as c.668G>A or p.R223Q, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006956	I6006956, also known as c.1366G>A or p.G456R, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I6007029	I6007029, also known as c.542C>T or p.S181L, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I6006989	I6006989, also known as c.119C>T or p.A40V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006991	I6006991, also known as c.874C>A or p.P292T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I6006996	I6006996, also known as c.1348C>T or p.R450C, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I6007032	I6007032, also known as c.809G>A or p.W270X, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006927	I6006927, also known as c.1171C>T or p.R391C, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I6006969	I6006969, also known as c.110T>C or p.L37P, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006926	I6006926, also known as c.667C>T or p.R223W, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002756	I5002756, also known as c.814C>T or p.R272C, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006912	I6006912, also known as c.512A>G or p.H171R, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.
ALPL	I5002757	I5002757, also known as c.535G>A or p.A179T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002765	I5002765, also known as c.979T>C or p.F327L, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I5002766	I5002766, also known as c.1001G>A or p.G334D, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002771	I5002771, also known as c.620A>C or p.Q207P, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006921	I6006921, also known as c.920C>T or p.P307L, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I5002773	I5002773, also known as c.881A>C or p.D294A, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I5002772	I5002772, also known as c.212G>C or p.R71P, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5012683	I5012683, also known as c.1133A>T or p.D378V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I5900451	I5900451, also known as c.323C>T or p.P108L, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the odonto form of hypophosphatasia.
ALPL	I6006888	I6006888, also known as c.1282C>T or p.R428X, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006889	I6006889, also known as c.401C>A or p.T134N, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006897	I6006897, also known as c.1184T>C or p.I395T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002774	I5002774, also known as c.211C>T or p.R71C, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
AMPD1	Rs35859650	AMPD1 gene, c.1261C>T (p.Arg421Trp) One report in ClinVar (based on OMIM) of a single individual in which this is reported to be a recessively inherited mutation leading to muscle AMP deaminase deficiency.
ANG	Rs11701	rs11701 In Irish amyotrophic lateral sclerosis patients, there was a significant allelic association with the rs11701 SNP & a new mutation (K40I) that potentially inhibits angiogenin function.
ANG	Rs17114699	The T allele is associated with risk of amyotrophic lateral sclerosis (ALS) in Irish and Swedish populations, but not in Polish populations.
ANGPTL3	Rs267606655	rs267606655, also known as c.50_51delCCinsGA and p.Ser17Ter, represents a rare loss of function variant in the ANGPTL3 gene on chromosome 1.As a loss of function variant, the minor allele leads to lower amounts of ANGPTL3 protein, lowered triglycerides and LDL cholesterol, and according to several studies, a lowered risk (by about 40%) of developing coronary artery disease.
ANGPTL3	Rs398122987	ANGPTL3, c.439_442delAACT (p.Asn147Terfs).
ANK2	Rs72544141	Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.
ANK3	Rs10994336	/ 23andMe blog rs10994336 or ( rs4948418 ) Each T at this SNP increased the odds of developing bipolar disorder by 1.45 times compared to the CC genotype.This is one of the SNPs reported by NutraHacker SNPs|NutraHacker.
ANK3	Rs4948418	/ 23andMe blog () rs10994336 or ( rs4948418 ) Each T at this SNP increased the odds of developing bipolar disorder by 1.45 times compared to the CC genotype.
ANO5	Rs137854521	A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
ANO5	Rs137854523	Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
ANO5	Rs137854529	A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
ANXA11	Rs1049550	499 German individuals with sarcoidosis and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls.
ANXA11	Rs7091565	499 German individuals with sarcoidosis and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls.
ANXA11	Rs7091565	rs2789679 : P = 3.0 x 10 (-13), rs7091565 : P = 1.0 x 10 (-5) rs1049550, T > C, R230C was found to be strongly associated with sarcoidosis.
ANXA11	Rs7091565	A common nonsynonymous SNP ( rs1049550, T > C, R230C) was found to be strongly associated with sarcoidosis.
ANXA11	Rs754594235	Aka NM_145869.1 (ANXA11) :c.523G>A or (p.Gly175Arg) OMIM pathogenic variant.
AP4E1	Rs760021635	rs760021635, also known as c.1549G>A, p.Val517Ile or V517I, is a variant in the AP4E1 gene on chromosome 15.The minor (A) allele of rs760021635 was reported as a mutation in the AP4E1 gene associated with stuttering in a 2015 study.
AP4E1	Rs556450190	rs556450190, also known as c.2401G>A, p.Glu801Lys or E801K, is a variant in the AP4E1 gene on chromosome 15.The minor (A) allele of rs556450190 was reported as a mutation in the AP4E1 gene associated with stuttering in a 2015 study.
APC	Rs1801155	Also known as rs28933380, related to colorectal cancer, FAMILIAL, AshkenaziThe APC I1307K mutation is primarily found in people of Ashkenazi Jewish heritage (Jews of Eastern European or Russian ancestry).
APC	Rs1801155	Researchers believe that 6% of Ashkenazi Jews carry this gene mutation, making them at a significantly higher risk for developing colorectal cancer.
APC	Rs1801155	Many patients with colorectal cancer experience no symptoms in the early stages.
APC	Rs1801155	Even children from 11 years of age should be screened if there is a family history of colorectal cancer.
APC	Rs1801166	Detailed molecular genetics of the APC E1317Q mutation in tumor tissue suggest it may not be pathologically significant Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy.
APC	Rs587782557	rs587782557, also known as c.426_427delAT or p.Leu143Alafs, represents a rare mutation in the APC gene on chromosome 5.First discovered in 1993 (, the mutant form of this variant is considered to lead to a dominantly inherited form of attentuated familial polyposis.
APOA2	Rs5082	rs5082 is a SNP in the apolipoprotein APOA2 gene, and may influence obesity and heart disease risk.Individuals homozygous for the -265T>C polymorphism in rs5082, i.e.
APOA2	Rs3813627	Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
APOA2	Rs5082	Individuals with the rs5082 (C;C) genotype of the Apolipoprotein A-II gene (APOA2) promoter, are associated with increased obesity|Body Mass Index and food intake in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) Study of ~1000 individuals.
APOA2	Rs5082	The odds ratio for obesity in (C;C) individuals compared to rs5082 (T) allele carriers was 1.70 (CI: 1.02-2.80, p=0.039).
APOA2	Rs5085	A meta-analysis of several APOA2 SNPs (including this one) found no association between any APOA2 SNPs studied and type-2 diabetes.
APOA2	Rs6413453	A meta-analysis of several APOA2 SNPs (including this one) found no association between any APOA2 SNPs studied and type-2 diabetes.
APOA5	Rs2075291	Heterozygosity was associated with a doubling of triglyceride levels, and all (11) rs2075291 (A;A) homozygotes (as oriented relative to dbSNP, not as published) had severe hypertriglyceridemia (mean triglyceride level of 2292 +/- 447 mg/dl).
APOA5	Rs662799	rs662799 (-1131T>C) influences severe hypertriglyceridemia.
APOB	Rs673548	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
APOB	Rs693	rs693 increases susceptibility to Elevated Apolipoprotein B and LDL-Cholesterol for carriers of the T allele.
APOB	Rs520354	rs520354 is a SNP in an intron of the apolipoprotein B APOB gene; it is also known as the IVS6+360C>T variant.In a study of ~1,000 Chinese patients with various biliary tract conditions, including cancer and gallstones, men carrying a rs520354 (A) allele had a 2x risk of bile duct cancer (CI: 1.2-3.4).
APOB	Rs144467873	rs144467873, also known as R3500W, is a SNP in the APOB apolipoprotein B gene.The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B under the name i4000339.
APOB	Rs12714264	Named in as a SNP potentially used in the calculation of a cardiovascular genetic risk score.
APOB	Rs12713559	rs12713559, also known as c.10672C>T, p.Arg3558Cys, R3558C and R3531C, is a SNP in the APOB apolipoprotein B gene.The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B, and where they note that the evidence is unclear about whether this mutation is causative on its own.
APOB	I4000339	Familial Hypercholesterolemia Type B rs144467873.
APOC3	Rs138326449	rs138326449, also known as IVS2+1G>A, is a rare variant in the apolipoprotein C3 APOC3 gene.As reported in two large studies published in 2014, rs138326449 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs138326449 (A) allele and a corresponding decrease in coronary artery disease.
APOC3	Rs140621530	rs140621530, also known as IVS3+1G>T, is a rare variant in the apolipoprotein C3 APOC3 gene.As reported in a large study published in 2014, it is one of four loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs140621530 (T) allele and a corresponding decrease in coronary artery disease.
APOC3	Rs147210663	rs147210663, also known as A43T, is a rare variant in the apolipoprotein C3 APOC3 gene.As reported in two large studies published in 2014, rs147210663 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs147210663 (A) allele and a corresponding decrease in coronary artery disease.
APOC3	Rs2542052	One study found that Ashkenazi who lived to age 95 or older are more likely to have two copies of the C allele.
APOC3	Rs76353203	rs76353203, also known as R19X, is a rare variant in the apolipoprotein C3 APOC3 gene.As reported in two large studies published in 2014, rs76353203 one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs76353203 (T) allele and a corresponding decrease in coronary artery disease.
APOE	Rs267606664	Based on electrophoretic mobility differences, this variant gave rise to a protein termed the ApoE-1 variant.This variant is also as c.434G>A, p.Gly145Asp or G145D, or in older numbering, p.Gly127Asp or G127D, and while reported in 1984 in a Finnish hypertriglyceridemia patient, OMIM reports that the association with that disorder was unclear.The 23andMe name for this variant is i6007510.
APOE	Rs387906567	Subsequent studies have implicated the Arg160Cys change in this haplotype as being responsible for the defective lipoprotein binding associated with that condition.See also: OMIM 107741.0008In 23andMe data, rs387906567 is referred to as i5000217 and i6007504.
APOE	Rs405509	Obstructive sleep apnea rs405509 Significant Alzheimers disease associations with were found for rs449647 (A;A) and rs405509 (G;G) genotypes (positive), and rs449647 (A;T) and rs405509 (T;T) <p>Note: the 2016 paper discussing a potential algorithm for Alzheimers risk based on ApoE promoter polymorphisms,, is considered too preliminary (and based on too few patients) to add to SNPedia in any detail.
APOE	Rs429358	Meta-analyses have also supported the association between the APOE-ε4 allele and somewhat increased risk for heart disease, with an odds ratio of 1.42 (CI: 1.26 - 1.61).Note: Although ApoE status is technically defined by these two SNPs, rs429358 and rs7412, a SNP in the adjacent ApoC1 gene, rs4420638, is co-inherited with ApoE and thus often - though not completely - predictive of it.
APOE	Rs439401	This appears to be the snp on the Illumina Human 550 which is closest to rs4420638.
APOE	Rs7412	APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.
APOE	Rs449647	Significant Alzheimers disease associations with were found for rs449647 (A;A) and rs405509 (G;G) genotypes (positive), and rs449647 (A;T) and rs405509 (T;T).
APOE	Rs527236160	He did have extremely high cholesterol levels (760 mg/dL) and mild atherosclerosis but otherwise no significant symptoms of cardiovascular disease.
APOE	Rs2373115	A study of 579 Italian Alzheimers patients saw this association, but only in ApoE4 non-carriers, suggesting it might be an independent risk factor for the disease.
APOE	Rs769455	Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
APOE	Rs440446	rs440446 is a SNP in an intron of the apolipoprotein E APOE gene; it is also known as the IVS1+69 variant.In a study of ~1,000 Chinese patients with various biliary tract conditions, including cancer and gallstones, men carrying a rs440446 (C) allele (in dbSNP orientation) had a 1.7x risk of gallstone disease CI: 1.2-2.4, a 1.8x risk of gallbladder cancer (CI: 1.0-3.3), a 3.7x risk of bile duct cancer (CI: 2.0-7.0), and a 4x risk of ampullary cancer (CI: 1.4-12.4).Note: orientation relative to dbSNP entry is reversed as published.
APOE	Rs2373115	A new (Dec 2008) meta-analysis concludes that, yes, indeed, rs2373115 is associated with increased risk for Alzheimers disease among ApoE4 carriers, with an odds ratio of 1.58 (CI: 1.17 - 2.14, p = 3 x 10e-3), but only among carriers.
APOE	Rs2373115	Conflicting reports of possible small increase in Alzheimers risk.
APOE	Rs2373115	Currently dubious at best. rs2373115 is one of several SNPs in the GAB2 gene indicating an increased risk (OR 4.1) of late-onset Alzheimers disease, but apparently only in individuals also carrying ApoE4 alleles, i.e.
APOE	Rs199768005	However, it is cited on this page and dbsnp as pathogenic in the context of Familial type 3 hyperlipoproteinemia.
APOE	Rs121918393	Furthermore, assuming that ApoE-ε3ch follows an allele-dose risk pattern similar to what has been observed for common APOE alleles, heterozygous ApoE-ε3ch carriage may also be convey protection against sporadic Alzheimers disease.
APOE	Rs121918393	Together, this these findings suggest that being a homozygous ApoE-ε3ch carrier will potentially also convey protection against sporadic Alzheimers disease.
APOE	Rs121918393	Likewise, common APOE alleles (ApoE-ε2, ApoE-ε3, and ApoE-ε4) have similar effects in autosomal dominant Alzheimers disease (, ApoE-ε4 carriers have earlier onset, ApoE-ε2 alleles have later onset).
APOE	Rs121918393	Autosomal dominant forms of Alzheimers disease and sporadic Alzheimers disease show largely similar pathogenesis.
APOE	Rs121918393	A 2019 study reported that that a carrier of a pathogenic PSEN1 mutation, known to cause early-onset Alzheimers disease, who was also a homozygous ApoE3ch carrier, did not show cognitive symptoms before her seventies, almost three decades after expected onset.
APOE	Rs121918393	Is evidence to suggest that ApoE-ε3ch may be associated with strong resistance to developing Alzheimers disease.
APOE	I6007504	Familial hyperlipoproteinemia, type III rs387906567.
APOE	I5000217	Familial hyperlipoproteinemia, type III rs387906567.
APOE	Rs2373115	rs429358 (C) alleles rs2373115 marker does not modify the risk of Alzheimers disease in Spanish APOE e4 carriers. rs2373115 (G) is the risk allele.
APOL1	Rs71785313	This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense.
APOL1	Rs73885319	This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense.
APOL1	Rs60910145	This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense.
APOL1	Rs4419330	Customers of 23andMe can use the presence of the A allele for coding SNP rs2239785 (p.E150K) or the presence of the G allele for coding SNP rs136175 (p.M228I) or coding SNP rs136176 (p.R255K) to exclude the presence of alleles G1 and G2 of APOL1, although absence of these alleles does not imply presence of either G1 or G2.
APOL1	Rs136176	Customers of 23andMe can use the presence of the A allele for coding SNP rs2239785 (p.E150K) or the presence of the G allele for coding SNP rs136175 (p.M228I) or coding SNP rs136176 (p.R255K) to exclude the presence of alleles G1 and G2 of APOL1, although absence of these alleles does not imply presence of either G1 or G2.
APOL1	Rs136175	Customers of 23andMe can use the presence of the A allele for coding SNP rs2239785 (p.E150K) or the presence of the G allele for coding SNP rs136175 (p.M228I) or coding SNP rs136176 (p.R255K) to exclude the presence of alleles G1 and G2 of APOL1, although absence of these alleles does not imply presence of either G1 or G2.
APP	Rs63751122	Aka Leu723Pro or L723P AlzForum.
APP	Rs63751039	For more information, see OMIM, ClinVar or AlzForum.Reported in as a definitely pathogenic mutation for early-onset Alzheimers disease.
APP	Rs63751039	rs63751039, also known as c.2078A>G, p.Glu693Gly and E693G, represents a rare mutation in the APP gene.Inherited dominantly, the minor allele is considered pathogenic for a form of Alzheimers disease, with onset between 50 - 65 years.
APP	Rs63750973	rs63750973, also known as c.2141C>T, p.Thr714Ile or T714I, represents a rare mutation in the APP gene.Inherited dominantly, the rare minor allele is considered pathogenic for an aggressive, early-onset form of Alzheimers disease; for more information, see ClinVar, AlzForum or OMIM.
APP	Rs63750921	APP gene mutation known as c.2113C>G, p.Leu705Val or L705VReported as pathogenic in ClinVar, OMIM and AlzForum for cerebral amyloid angiopathy.
APP	Rs63750868	rs63750868, also known as c.2144T>C, p.Val715Ala or V715A, represents a rare mutation in the APP gene.Inherited dominantly, the minor allele is considered pathogenic for Alzheimers disease; for more information, see AlzForum or AD&FTDMDB.
APP	Rs63750847	No family history; no amyloid deposition.The variant also makes developing Alzheimers disease four times less likely across all age groups.
APP	Rs63750847	The minor allele has been reported to reduce risk for Alzheimers disease.
APP	Rs63750734	rs63750734, also known as c.2143G>A, p.Val715Met and V715M, represents a rare mutation in the APP gene.Inherited dominantly, the minor allele is considered pathogenic for Alzheimers disease; for more information, see ClinVar, AlzForum or OMIM.
APP	Rs63750851	Known as I716T, and reported in AlzForum based on a 2002 abstract to be a pathogenic mutation for early-onset Alzheimers disease.
APP	Rs63750671	More information can be found in ClinVar, OMIM and AlzForum.Reported in as a definitely pathogenic mutation for early-onset Alzheimers disease.
APP	Rs63750579	The former is also known as the Italian variant and the latter as the Dutch variant.Both are reported in OMIM and AlzForum as pathogenic for cerebral amyloid angiopathy; the Italian variant is reported to have an onset at a significantly later age than the Dutch variant.
APP	Rs63750399	The c.2146A>G is also known as p.Ile716Val or I716V; the c.2146A>T mutation is also known as p.Ile716Phe or I716F.Both mutations are considered dominantly inherited pathogenic mutations leading to Alzheimers disease.
APP	Rs63750671	In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimers disease.
APP	Rs63750066	More information can be found in ClinVar and in the AlzForum.Reported in as a definitely pathogenic mutation for early-onset Alzheimers disease.
APP	Rs63750066	rs63750066, also known as c.2137G>A, p.Ala713Thr and A713T, represents a rare mutation in the APP gene.Inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimers disease or cerebral amyloid angiopathy.
APP	Rs63750064	AlzForumThe G>A mutation for this SNP leads to D678N, apparently also associated with early-onset Alzheimers disease, inherited dominantly, and also based on only one publication.
APP	Rs63750064	rs63750064, also known as D678H and D678N, represents two rare mutations in the APP gene.The G>C mutation for this SNP leads to D678H, apparently associated with early-onset Alzheimers disease, inherited dominantly, although perhaps based on only one publication.
APP	Rs281865161	Inherited dominantly, the (rare) minor allele is considered pathogenic for Alzheimers disease in both ClinVar and AlzForum.This is reported to lead to a relatively early-onset form of Alzheimers, with a mean age of onset of 55 years, according to an older (1992) report cited in OMIM.
APP	Rs145564988	Note that this SNP is defined on the plus strand (yet the cDNA is oriented on the minus), and, that there are more common, synonymous, presumably benign variants (c.2148C>A and c.2148C>T) at this location.Reported in AlzForum as pathogenic for Alzheimers disease based on a 2015 publication.
AR	Rs137852591	- Height related SNP; carriers of the (rare) minor allele for this SNP are approximately 2 cm shorter than non-carriers.
ARG1	Rs2781659	Associated with bronchodilator response among a sample of 209 children and their parents participating in the Childhood Asthma Management Program, the minor allele was associated with lower BDR compared to the homozygous major allele.
ARG1	Rs377280518	rs377280518, also known as c.G923A, c.1002G>A, Arg308Gln or R308Q, represents a variant in the ARG1 gene on chromosome 6.Two publications have implicated the rs377280518 (A) allele as a recessive mutation associated with argininemia (also known as hyperargininemia; OMIM 207800).,.
ARMS2	Rs3750848	Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
ARMS2	Rs3750847	Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
ARMS2	Rs3750847	Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
ARMS2	Rs3750847	Association with ARMD Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.
ARMS2	Rs3750847	A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
ARMS2	Rs10490924	Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimers disease.
ARMS2	Rs3750847	Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
ARSA	I6007566	rs6151429 pseudoarylsulfatase A deficiency.
ARSA	Rs6151429	However, sufficient functional enzyme is usually present to avoid sulfatide accumulation, so this does not cause metachromatic leukodystrophy (MLD).For more information, recommended sources include / Gene Reviews and OMIM 607574.0001.This SNP is referred to as i6007566 by 23andMe.
ARSA	Rs74315455	Aka c.302G>T (p.Gly101Val) and also c.302G>A (p.Gly101Asp). both are pathogenic according to ClinVar23andMe name for c.302G>A: i5004778.
ASL	Rs796051933	C.1045_1057delGTCATCTCTACGC or p.Val349Cysfs.
ASL	Rs769960006	C.476C>T, p.Thr159Ile or T159Ipathogenic for argininosuccinate lyase deficiency, according to.
ASL	Rs751590073	C.545G>A, p.Arg182Gln or R182Q.
ASL	Rs749788626	C.1331C>T, p.Ala444Val or A444Vpathogenic for argininosuccinate lyase deficiency, according to.
ASL	Rs367543006	Aka c.346C>T, p.Gln116Ter or Q116X23andMe name: i700184.
ASL	Rs752100894	C.260A>G, p.Asp87Gly or D87Gpathogenic for argininosuccinate lyase deficiency, according to.
ASL	Rs202142867	C.299T>C, p.Ile100Thr or I100Tpathogenic for argininosuccinate lyase deficiency, according to.
ASL	Rs145138923	C.35G>A, p.Arg12Gln or R12Q.
ASL	Rs143793815	C.392C>T, p.Thr131Met or T131MConsidered pathogenic for argininosuccinate lyase deficiency, according to, however, it is listed in ClinVar as of uncertain pathogenicity, presumably due to having a (slightly) higher population frequency than expected for a pathogenic allele.
ASL	Rs142637046	C.446+1G>Anote: in, this mutation is referred to as IVS5+1G-->A.
ASL	Rs28940286	C.1153C>T, p.Arg385Cys or R385C.
ASPA	Rs28940574	OMIM reports that in non-Jewish patients of European origin, the A305E mutation accounts for 50% of Canavan disease-associated alleles.FTDNA & MyHeritage name: VG17S16802.
ASPA	Rs28940574	rs28940574, also known as c.914C>A, A305E or p.Ala305Glu, is a SNP in the ASPA gene. rs28940574 is one of several known causal SNPs of Canavan disease.
ASPA	Rs780936696	ASPA gene variant, known as c.237-2A>TNote that one source in ClinVar indicates that the minor allele is a pathogenic mutation (for Canavan disease), while another source indicates the minor allele is of uncertain significance.
ASPA	Rs104894552	ASPA gene variant:c.746A>T, p.Asp249Val, D249V23andMe name: i5006787.
ASPA	Rs12948217	Note that a benign variant of this SNP (c.693C>T) also exists as discussed below.Only the A allele at rs12948217 confers risk to Canavan disease.
ASS1	Rs35269064	As of June 2016, this SNP appears to be prone to miscalling in AncestryDNA V2.0 datasets.Minor allele should be reclassified as benign according to.
ASS1	Rs666174	ASS1 - Argininosuccinate synthase 1.
ASS1	Rs7860909	ASS1 - Argininosuccinate synthase 1.
ASXL1	Rs373145711	rs373145711, also known as c.1210C>T, p.Arg404Ter, R404X, represents a rare mutation in the ASXL1 gene on chromosome 20.Considered an autosomal dominant mutation leading to Bohring-Opitz syndrome, the minor allele has been seen in apparently normal individuals in the ExAC (exome) database.
ASXL1	Rs373145711	This has been explained as a case of somatic mosaicism, prompting researchers to worry that similar cases of somatic mosaicism may lead to the inaccurate assumption that conditions like Bohring-Opitz syndrome have reduced penetrance, or the misclassification of potentially pathogenic variants.
ATG16L1	Rs2241879	rs2241879 has been associated with Crohns disease; the minor allele is somewhat protective in that it lessens the odds of acquiring the disease (odds ratio 0.74, CI: 0.65-0.84, p=3.6x10e-6).
ATG16L1	Rs10210302	rs10210302 has been reported in a large study to be associated with Crohns disease.The risk allele (oriented to the dbSNP entry) is (T). the odds ratio associated with heterozygotes is 1.19 (CI 1.01-1.41), and for homozygotes, 1.85 (CI 1.56-2.21).
ATG16L1	Rs2241880	ATG16L1 polymorphisms are associated with NOD2-induced hyperinflammation.
ATIC	Rs4673993	Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.
ATM	Rs1800056	Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
ATM	Rs1800057	Variants in the ATM gene and breast cancer susceptibility.
ATM	Rs1800058	Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
ATM	Rs1801673	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
ATM	Rs28904921	rs28904921, also known as c.7271T>G, p.Val2424Gly and V2424G, is a mutation in the ATM gene on chromosome 11.Although most high risk (causative) mutations for cancers prematurely truncate encoded proteins, the rs28904921 (G) mutation is a missense variant that appears to lead to a quite high relative risk for breast cancer (relative risk increase of 8.0, CI: 2.8 to 22.5, p=0.0005).
ATM	Rs28904921	In contrast to most BRCA mutations, which are considered tumor suppressors and functionally recessive, this ATM mutation is considered a dominant negative, since loss of the wild-type allele in tumors with the ATM mutation is not consistently observed.Note that the confidence intervals are quite large, so although the relative risk is calculated as increasing eight-fold, the authors cited indicate that they can only state with 95% confidence that the true increase in relative risk lies somewhere between 2.8 and 22.5.Somewhat similarly, a 2016 publication study involving 42,000 breast cancer cases concluded that rs28904921 (G) carriers had an odds ratio of 11 (CI:1.4-85; p=0.0012) and a 52% (CI: 28-80%) chance of developing the disease by age 70.
ATM	Rs3092856	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
ATM	Rs3218695	This SNP, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
ATM	Rs3218695	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (A).
ATM	Rs4987945	This SNP, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
ATM	Rs4987945	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (G).
ATP13A2	Rs1057519292	C.364C>T (p.Gln122Ter).
ATP1A2	Rs28933400	Association of the polymorphisms of sodium transport related genes with essential hypertension.
ATP7A	Rs2227291	X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.
ATP7B	Rs76151636	Aka c.3207C>A, p.His1069Gln, H1069QThis is commonly considered the most frequent ATP7B gene associated with Wilsons disease in European populations.FTDNA & MyHeritage name: VG13S5244423andMe name: i5053895 The Wilson disease gene: spectrum of mutations and their consequences.
ATP7B	Rs28942074	Aka c.2333G>T, p.Arg778Leu, R778LThis mutation is commonly considered the most frequent ATP7B gene mutation associated with Wilsons disease in Asian populations.
ATP7B	Rs1061472	Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
ATP7B	Rs137853280	The editing of the SNPedia entry allows Promethease to correctly indicate to Ancestry users that they are predicted to carry the common/normal genotype, despite the error in Ancestry raw data.
ATR	Rs2227928	rs2227928, also known as Ex4+340C>T or T211M, is a SNP in the ATR gene.Although not significant on its own, as 1 of 3 SNPs its risk allele ( rs2227928 (C) ) is associated with poorer overall survival for pancreatic cancer patients being treated with combined gerncitabine radiation therapy.
ATR	Rs2227928	Median overall survival times of 31.0, 16.2, and 10.5 months were calculated for pancreatic cancer patients carrying < or = 1, 2, and 3 risk alleles from rs664143 (C), rs2227928 (C), and rs521102 (T;T), respectively (P=0.004).
ATR	Rs6782400	rs8178085 and rs12334811 with approaching dose-dependent effect on lung cancer predisposition, subjects carrying two to four risk genotypes were associated with a 43% decreased lung cancer risk compared with subjects carrying zero to one risk genotypes (adjusted odds ratio, 0.53; 95% confidence interval, 0.35-0.80).Moreover, the decreased risk associated with the combined genotypes of rs8178085 and rs12334811 was slightly more pronounced in nonsmokers and in carriers with ataxia-telangiectasia mutated rs228591 variant allele or ataxia-telangiectasia and Rad3-related rs6782400 wild-type homozygous genotype.
ATXN2	Rs653178	/ 23andMe blog blood pressure.
ATXN2	Rs7137828	Reported to be associated with longevity.
AURKA	Rs1047972	Influences mitosis associated with cancer breast cancer colorectal cancer gastric cancer.
AURKA	Rs2273535	SNP rs2273535, also known as F31I or Phe31Ile, has been associated with increased risk for several cancers, in most cases when individuals are homozgyous for the risk allele, rs2273535 (T), as oriented to the dbSNP entry.A meta-analysis of almost 10,000 cases of breast, colon, ovarian, prostate, lung, esophageal and non-melanoma skin cancer, compared to an equal number of Caucasian controls, determined the following risks (i.e., odds ratios, OR) : For colorectal cancer: OR for homozygotes of 1.5 (CI: 1.14-1.99) For breast cancer: OR for homozygotes of 1.35 (CI: 1.12-1.64) For any of the cancer types studied: OR for heterozygotes of 1.10 (CI: 1.03-1.18), OR for homozygotes of 1.40 (CI: 1.22-1.59) In a Chinese population, breast cancer risk for rs2273535 (T;T) homozygotes compared to the other two genotypes led to an odds ratio of 1.66 (CI: 1.29-2.12), and appeared to be more pronounced for younger patients.
AURKA	Rs8173	Bladder cancer SNP panel predicts susceptibility and survival.
BAAT	Rs1572983	Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
BARD1	Rs3768716	/ 23andMe blog Each copy of a G at this SNP increases the odds of aggressive neuroblastoma by 1.68 times.allelic odds ratio of 1.68 (p = 2.74 x 10 (-16) ) Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
BARD1	Rs6435862	Each G allele has been associated with an allelic odds ratio of 1.68 (p = 8.65 x 10 (-18) ) for risk of aggressive neuroblastoma.
BCAM	Rs1135062	rs1135062 encodes the Auberger blood group polymorphism, an allelic variant within the Lutheran blood group encoded by the BCAM gene.
BCHE	Rs28933389	Aka c.812C>T (p.Thr271Met or T271M) (T;T) has a moderate change in BCHE activity according to annerwrightPseudocholinesterase Deficiency.
BCHE	Rs1803274	K variant homozygotes), but not heterozygotes, are at higher risk factor for developing neurofibrillary tangles, at least in young individuals Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.
BCKDHA	Rs137852870	rs137852870, also known as c.1312T>A, p.Tyr438Asn and Y438N, represents a rare variant in the BCKDHA gene on chromosome 19.The rs137852870 (A) variant, when inherited recessively, is considered pathogenic for Maple Syrup Urine Disease.
BCKDHA	Rs398123489	rs398123489, also known as c.117delC and p.Arg40Glyfs, is a mutation in the BCKDHA gene on chromosome 19.The rare rs398123489 (-) allele, representing the deletion of the C normally at this position, is considered causative for Maple Syrup Urine Disease when inherited in two copies.
BCKDHB	I3002808	Also known as rs79761867 (and formerly as rs28934895 ) but both share the (G;G) as normal plus strand orientationMaple Syrup Urine Disease, Type 1B.
BCKDHB	I4000422	Related to Maple Syrup Urine DiseaseMaple Syrup Urine Disease Type 1B rs386834233.
BCKDHB	Rs150084361	This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening panel.Note: rs150084361 has been merged by dbSNP into rs386834233.
BCKDHB	Rs28934895	With a frequency of about 1 in 100 among Jews of European descent, the much rarer rs28934895 (C) allele encodes a proline (P), and it is the most frequent mutation leading to Maple Syrup Urine Disease, accounting for perhaps 90% of the mutations in this population group.
BCR	Rs131690	The odds ratio for carriers of the minor allele (G) are reported as 1.50 (CI:1.14 - 2.03, p=0.0063) based on a study of 171 Japanese patients.
BCR	Rs131702	The odds ratio for carriers of the minor allele (G) are reported as 1.49 (CI:1.15 - 1.93, p=0.0026) based on a study of 171 Japanese patients.
BCR	Rs140504	The odds ratio for carriers of the minor allele (G) are reported as 1.45 (CI:1.11 - 1.84, p=0.0054) based on a study of 171 Japanese patients.
BCR	Rs2156921	rs2156921, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for depression.
BCR	Rs2267013	The odds ratio for carriers of the minor allele (G) are reported as 1.27 (p=0.044) based on a study of 329 Japanese patients.
BCR	Rs3761418	rs3761418, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for depression.
BLM	I4000396	Bloom syndromesee rs113993962.
BLM	Rs2380165	rs2380165, rs2412546 and rs4417527 associated with breast cancer.
BLOC1S3	Rs2159324	LDL cholesterol and total cholesterol levels being the quantitative trait associated with in.
BMP2	Rs3178250	rs3178250 (C;C) protected against otosclerosis (combined populations: p = 2.2 x 10 (-4). OR = 2.027; 95% CI = 1.380-2.979.
BMP2	Rs15705	Analysis of genetic polymorphisms in skeletal Class I crowding.
BMP2	Rs235754	SNP rs235754, a variant located in the 3 region of the bone morphogenic protein-2 BMP2, has been reported to be associated with two parameters associated with bone density and thus the likelihood of bone fractures or osteoporosis.A study of Swedish women of varying ages found that rs235754 was significantly associated with the ultrasound parameters speed of sound and stiffness.
BMP2	Rs235756	rs235756, a relatively common SNP in the BMP2 gene, has been associated with higher serum transferrin levels - and presumably therefore higher risk for developing hemochromatosis - in the rare individuals who are rs1800562 (A;A) homozygotes, i.e.
BNC2	Rs10738445	rs10738445 is a SNP in an intron of the BNC2 gene on chromosome 9.A GWAS study in Japanese and Han Chinese scoliosis patients found a significant (though small; odds ratio 1.21, p = 2.46 × 10e−13) association between rs10738445 (A) and the disorder, and several lines of experiment evidence supported the hypothesis that increased BNC2 expression predisposes individuals to adolescent scoliosis (AIS).
BNC2	Rs10810635	This SNP is associated to freckles.
BNC2	Rs2153271	An association between freckling and rs2153271.
BRAF	Rs121913355	As represented in dbSNP on the minus strand, which is also the cDNA strand, the reference allele is rs121913355 (G), also known as c.1406G.The variant known as c.1406G>A (p.Gly469Glu) is annotated by an expert panel in ClinVar as associated with a rasopathy; whereas c.1406G>C and c.1406G>T are both annotated in ClinVar as somatic mutations seen in certain cancers.23andMe name for c.1406G>A: i6008195.
BRCA1	Rs80357688	rs80357688, also known as 2190delA, c.2071_2071delA and p.Arg691Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357711	rs80357711, also known as 4154delA, 4035delA, 4135delA, c.4035_4035delA and p.Glu1345=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357714	rs80357714, also known as 1499insA, c.1380_1381insA and p.Ile460_Phe461?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357669	rs80357669, also known as 2457delC or p.Asp821Ilefs, is a deletion variant in the BRCA1 gene.
BRCA1	Rs80357717	rs80357717, also known as 2826insAT, c.2707_2708insAT and p.Cys903?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357558	rs80357558, also known as 5536delC, c.5417_5417delC and p.Pro1806Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357747	rs80357747, also known as 816delGT, c.697_698delGT and p.Val233Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357783	rs80357783, also known as c.68_69delAG (p.Glu23Valfs), is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357786	rs80357786, also known as 2418delA, c.2299_2299delA and p.Ser767Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357801	rs80357801, also known as 1563del4, c.1444_1447delATTA and p.Ile482_Ile483?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357654	rs80357654, also known as 2329delCA, c.2210_2211delCA and p.Thr737Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357729	rs80357729, also known as 3746insA, c.3627_3628insA and p.Leu1209_Glu1210?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357641	rs80357641, also known as 4868delAG, c.4749_4750delAG and p.Arg1583_Ala1584SerProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357609	rs80357609, also known as c.3695_3699GTAAA, 3819del5, c.3700_3704delGTAAA and p.Val1234_Asn1235?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357635	rs80357635, also known as 3347delAG, c.3228_3229delAG and p.Arg1076_Gly1077ArgAlafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357624	rs80357624, also known as 3374insGA, c.3255_3256insGA and p.Arg1085_Leu1086?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357623	rs80357623, also known as c.5030_5034delCTAAT, 5154del5, c.5035_5039delCTAAT and p.Leu1679_Ile1680?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357612	rs80357612, also known as 1240delC, c.1121_1121delC and p.Thr374Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357804	rs80357804, also known as 4235delTG, c.4116_4117delTG and p.Cys1372_Glu1373TerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357604	rs80357604, also known as 448insA, c.329_330insA and p.Lys110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357600	rs80357600, also known as 1793delA, c.1674_1674delA and p.Lys558=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357597	rs80357597, also known as 1459insG, c.1340_1341insG and p.Val447?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357596	rs80357596, also known as 2798del4, c.2679_2682delGAAA and p.Lys893_Lys894?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357590	rs80357590, also known as 5454delC, c.5335_5335delC and p.Gln1779Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357583	rs80357583, also known as 2388delG, c.2269_2269delG and p.Val757Phefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357569	rs80357569, also known as 1135insA, c.1016_1017insA and p.Lys339?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357637	rs80357637, also known as 262delT, c.143_143delT and p.Met48Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357808	rs80357808, also known as c.3442delG, 3561delG, c.3442_3442delG and p.Glu1148Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357862	rs80357862, also known as 5149del4, c.5030_5033delCTAA and p.Thr1677_Asn1678?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357829	rs80357829, also known as 3109insAA, c.2990_2991insAA and p.Asn997?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80359874	rs80359874, also known as 1294del40, c.1175_1214del and p.Leu392_Ser405?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80358158	rs80358158, also known as c.135-1G>T and c.135-1G>C, represents a variant in the BRCA1 gene.Both minor alleles are considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357993	rs80357993, also known as 3889delAG, c.3770_3771delAG and p.Glu1257Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357981	rs80357981, also known as 4362delG, c.4243_4243delG and p.Glu1415Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357980	rs80357980, also known as 3731delA, c.3612_3612delA and p.Arg1204=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357977	rs80357977, also known as 4370delGT, c.4251_4252delGT and p.Val1417_Leu1418ValArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357975	rs80357975, also known as 5296del4, c.5177_5180delGAAA and p.Arg1726_Lys1727?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357971	rs80357971, also known as 2800delAA, c.2681_2682delAA and p.Lys894Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.This BRCA1 mutation is generally considered to be a founder mutation from Scotland and Northern Ireland.23andMe name: i4000456.
BRCA1	Rs80357970	rs80357970, also known as c.2475delC, 2594delC, c.2475_2475delC and p.Asp825Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357969	rs80357969, also known as 1479delAG, c.1360_1361delAG and p.Ser454Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357945	rs80357945, also known as 3477delGT, c.3358_3359delGT and p.Val1120Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357941	rs80357941, also known as 795delT, c.676_676delT and p.Cys226Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357823	rs80357823, also known as 5438insC, c.5319_5320insC and p.Thr1773_Asn1774?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357925	rs80357925, also known as 5378delA, c.5259_5259delA and p.Arg1753=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357906	rs80357906, also known as 5382insC, c.5266dupC, c.5263_5264insC and p.Ser1755?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.This BRCA1 mutation is considered a founder mutation in several populations including Ashkenazi Jews. rs80357906 is equivalent to rs397507247 (which is occasionally found in some older data).23andMe name: i4000378.
BRCA1	Rs80357903	rs80357903, also known as 3450del4, c.3331_3334delCAAG and p.Gln1111_Glu1112?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357902	rs80357902, also known as 3767insA, c.3648_3649insA and p.Leu1216_Ser1217?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357889	rs80357889, also known as 3977del4, c.3858_3861delTGAG and p.Ser1286_Glu1287?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357888	rs80357888, also known as 1623del5, c.1504_1508delTTAAA and p.Leu502_Lys503?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5009929.
BRCA1	Rs80357887	rs80357887, also known as c.466_467delCT, 589delCT, c.470_471delCT and p.Ser157Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357880	rs80357880, also known as 2224insT, c.2105_2106insT and p.Leu702?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357868	rs80357868, also known as 3875del4, c.3756_3759delGTCT and p.Leu1252_Ser1253?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357853	rs80357853, also known as 2080insA, c.1961_1962insA and p.Lys654?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357848	rs80357848, also known as 3883insA, c.3764_3765insA and p.Asn1255?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357846	rs80357846, also known as 3124delA, c.3005_3005delA and p.Asn1002Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357844	rs80357844, also known as 1048delA, c.929_929delA and p.Gln310Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357908	rs80357908, also known as 1629delC, c.1510_1510delC and p.Arg504Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357526	rs80357526, also known as 2072del4, c.1953_1956delGAAA and p.Lys651_Lys652?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5009905.
BRCA1	I5009546	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	Rs80357522	rs80357522 represents at least 4 BRCA1 gene mutations, known by a variety of names including c.1961dupA, c.1960_1961delAA, c.787+1171_787+1174delAAAA, c.1961del, 2080delA, c.1961_1961delA and p.Lys654Serfs; all are considered pathogenic variants for breast cancer in ClinVar.
BRCA1	Rs4986850	This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA1	Rs41293463	It is also among the most common hereditary breast cancer mutations observed in a group of Nigerian patients.23andMe name for the T>G variant: i5010037 See also Omim 113705.0035.
BRCA1	Rs41293463	ClinVar has designated both minor alleles as pathogenic for breast cancer.This variant is considered to be the first BRCA1 mutation identified in an African-American family.
BRCA1	Rs41293463	It seems likely that primarily (G;G) homozygotes would be at increased risk for breast cancer but this has not been demonstrated.
BRCA1	Rs41293463	rs41293463, also known as c.5324T>G (p.Met1775Arg or M1775R) as well as c.5324T>A (p.Met1775Lys or M1775K), is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1775.A study found that the rs41293463 (G) allele has impaired transcriptional ability, and this allele was found in some patients with breast cancer.
BRCA1	Rs386833395	Formerly (being being merged into rs386833395 ) this SNP was also known as rs796856605.This 185delAG mutation is considered a founder mutation among Ashkenazi Jews. rs386833395 as well as rs796856605 are referred to as i4000377 by 23andMe.
BRCA1	Rs28897672	The more common rs28897672 (T) allele encodes Cys, while the rare rs28897672 (G) allele encodes Gly; this variation is also known as c.181T>G, 300T>G, Cys61Gly or C61G.An additional two alternate alleles, c.181T>A and c.181T>C, are also known, and both are annotated in ClinVar as also pathogenic for breast cancer, however, by only a single submitter.A study of 66 Polish families affected with breast cancer or ovarian cancer, often diagnosed at a relatively young age (< 50 years old), screened for BRCA1 mutations by sequencing.
BRCA1	Rs273900730	rs273900730, also known as 4510delCTAinsTT, c.4391_4393delCTAinsTT and p.Pro1464_Ile1465LeuTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs273897659	rs273897659, also known as 1508delAAinsG, c.1389_1390delAAinsG and p.Lys463_Thr464LysProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs2227945	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (G).
BRCA1	Rs1800709	The more common rs41293463 (C) allele encodes Arg, while the rare rs41293463 (T) allele encodes Trp; this SNP is also known as R841W.A 1996 study of 305 cases in Southern California of breast cancer and ovarian cancer found 3 cases carrying the rs1800709 (T) allele.
BRCA1	Rs1799966	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (G).
BRCA1	Rs1799950	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.This particular SNP, rs1799950, was actually the only SNP of the 25 to have an increased odds ratio for breast cancer to be over 1.5 in carriers and to also be present at a minor allele frequency of over 5%.
BRCA1	I5009558	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I5009553	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	Rs80357524	rs80357524, also known as 2552delC, c.2433_2433delC and p.Pro811=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	I5009541	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I5009536	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I5009526	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I5009520	rs1800747 BRCA1 breast cancer.
BRCA1	I5009511	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I5009493	For information about causal/pathogenic BRCA1 mutations and what they imply about the odds of developing breast cancer, please see the BRCA1 page and links from that page.
BRCA1	I4000461	rs80357662 breast cancer.
BRCA1	I4000459	rs80357711 breast cancer.
BRCA1	I4000377	Note that this SNP is known to have reduced penetrance (~40 - 50%).The normal/common (unmutated) form of the 185delAG SNP is called i4000377 (I;I) by 23andMe; the genotypes containing the mutation are i4000377 (D;I) or even less commonly i4000377 (D;D).
BRCA1	Rs4986850	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (A).
BRCA1	Rs55770810	An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association.
BRCA1	I4000378	Is the name used by 23andMe for rs80357906, also known as 5382insC, a BRCA1 gene mutation influencing your risk for breast cancer and ovarian cancer.
BRCA1	Rs80356875	rs80356875, also known as E720X, c.2158G>T and p.Glu720Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010223.
BRCA1	Rs62625308	rs62625308, also known as R1203X, c.3607C>T and p.Arg1203Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5005571.
BRCA1	Rs80357520	rs80357520, also known as 3878delTA, c.3759_3760delTA and p.Ser1253_Lys1254SerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357511	rs80357511, also known as 3312insG, c.3193_3194insG and p.Asp1065?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357509	rs80357509, also known as c.3485delA, 3604delA, c.3485_3485delA and p.Asp1162Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357508	rs80357508, also known as 4184del4, c.4065_4068delTCAA and p.Asn1355_Gln1356?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i4000453.
BRCA1	Rs80357443	rs80357443, also known as E29X, c.85G>T and p.Glu29Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357433	rs80357433, also known as Y1563X, c.4689C>G and p.Tyr1563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357405	rs80357405, also known as S1130X, c.3389C>G and p.Ser1130Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i6008291.
BRCA1	Rs80357389	It is also rare in that all three possible alternative alleles are known, and, all three are reported to be pathogenic for breast cancer in ClinVar.The major (normal) allele is rs80357389 (G).
BRCA1	Rs80357355	rs80357355, also known as K654X, c.1960A>T and p.Lys654Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010233.
BRCA1	Rs80357347	rs80357347, also known as K1727X, c.5179A>T and p.Lys1727Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i6008219.
BRCA1	Rs80357318	rs80357318, also known as Q1313X, c.3937C>T and p.Gln1313Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010136.
BRCA1	Rs80357292	rs80357292, also known as W321X, c.962G>A and p.Trp321Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357382	C.211A>G (p.Arg71Gly) ClinVar designates this variant as pathogenic/likely pathogenic for breast cancer23andMe name: i5005573.
BRCA1	Rs80357259	rs80357259, also known as E1373X, c.4117G>T and p.Glu1373Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357251	rs80357251, also known as E879X, c.2635G>T and p.Glu879X, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010203.
BRCA1	Rs80357233	rs80357233, also known as S713X, c.2138C>G and p.Ser713Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80356925	rs80356925, also known as S868X, c.2603C>G and p.Ser868Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i6008289.
BRCA1	Rs80357162	rs80357162, also known as L1230X, c.3689T>G and p.Leu1230Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357161	rs80357161, also known as E1038X, c.3112G>T and p.Glu1038Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357131	rs80357131, also known as Q855X, c.2563C>T and p.Gln855Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010209.
BRCA1	Rs80357115	rs80357115, also known as Y978X, c.2934T>G and p.Tyr978Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010190.
BRCA1	Rs80357071	rs80357071, also known as S1383X, c.4148C>G and p.Ser1383Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357035	rs80357035, also known as E904X, c.2710G>T and p.Glu904Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357010	rs80357010, also known as Q494X, c.1480C>T and p.Gln494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010261.
BRCA1	Rs80357284	rs80357284, also known as W1782X, c.5346G>A and p.Trp1782Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80356991	rs80356991, also known as E143X, c.427G>T and p.Glu143Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA2	Rs1801426	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (G).23andMe name: i5009256.
BRCA2	Rs28897756	rs28897756, also known as 9345G>A, c.9117G>A, p.Pro3039= and P3039P is a SNP in the breast cancer 2 BRCA2 gene.The rare rs28897756 (A) allele has been linked to increased risk for breast cancer in some Dutch families..
BRCA2	Rs28897756	It is considered a causal mutation for breast cancer by UMD and is denoted pathogenic in ClinVar.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.Another name used by 23andMe for this SNP is i5010626.
BRCA2	Rs80359550	rs80359550, also known as 6174delT, c.5946_5946delT and p.Ser1982Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.More commonly known as 6174delT, rs80359550 is a mutation in the BRCA2 gene linked to early-onset breast cancer.
BRCA2	Rs4987117	This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA2	Rs4987117	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
BRCA2	Rs4987117	Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer.
BRCA2	Rs1799954	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
BRCA2	Rs4987047	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
BRCA2	Rs11571833	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (T).
BRCA2	Rs1801426	This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA2	Rs11571747	This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA2	Rs11571747	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (C).
BRCA2	I4000466	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.Note assignment of i4000466 to rs80359675 is an educated guess, which 23andMe will not confirm.
BRCA2	I5005576	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.
BRCA2	I5005578	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.
BRCA2	I4000379	The genotypes containing the causal/pathogenic variants are (D;I) and the even rarer (D;D).For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.i4000379 is the identifier used by 23andMe for the 6174delT mutation that is rs80359550 as identified in public SNP databases.Additional BRCA information may be found in numerous places online, and within 23andMe, / here.In addition to i4000379, the other names used by 23andMe for the most common causal mutations are i4000377 and i4000378.
BRCA2	I5009090	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.
BRCA2	I5009091	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.
BRCA2	Rs11571746	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (C).23andMe name: i5009299.
BRCA2	I5005579	For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.
BRIP1	Rs137852986	Conclusion：Truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk.
BRIP1	Rs4986764	Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
BRIP1	Rs587778134	The mutation was also associated with increased risk of cancer in general and an overall reduced average lifespan of 3.6 years.
BTD	Rs13078881	Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
BTD	Rs35034250	It has been observed as pathogenic only in combination with other variants.
C3	Rs10402876	Polymorphisms within the C3 gene are associated with specific IgE levels to common allergens and super-antigens among atopic dermatitis patients.
C3	Rs1047286	rs1047286 is a SNP in the complement component C3 gene.A 2011 meta-analysis of seven studies concluded that, at least for Caucasians, the rs1047286 (C;T) and (T;T) genotypes had 1.27 (CI: 1.15 - 1.41) and 1.70 (CI: 1.27 - 2.11) times higher risk of ARMD than did (G;G) genotypes.
C3	Rs11569562	A SNP in the C3 gene, rs11569562, has been associated with increased risk for adult bronchial asthma in a study of Japanese patients.
C3	Rs2230199	rs2230199, a SNP in the complement component C3 gene, has been reported by several investigators to be associated with ARMD.
C3	Rs2230199	NEJM reports significant associate with ARMD.
C3	Rs2230201	In ~500 Japanese SLE patients, the (G) allele of rs2230201, a SNP in the C3 gene, is associated with higher risk for systemic lupus erythematosus (SLE).
C3	Rs7951	The mean serum level of the C3 protein was lower in (C;T) and (T;T) genotypes than for individuals with (C;C) genotypes.
C5	Rs10985112	rs10985112 increases susceptibility to Rheumatoid Arthritis 1.57 times for carriers of the A allele Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.
C5	Rs7026551	rs7026551 increases susceptibility to Rheumatoid Arthritis 1.31 times for carriers of the C allele.
CACNA1A	Rs121908236	Clinical spectrum of episodic ataxia type 2.
CACNA1C	Rs1006737	During perception of fearful faces, the presence of the A risk allele was associated with decreased outflow of information from medial frontal gyrus (MFG), which was significantly more marked in patients than in their unaffected relatives and healthy controls.
CACNA1C	Rs121912776	Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
CACNA1C	Rs2159100	/ 23andMe blog () rs1006737 or ( rs2159100 ) Each T at this SNP increased the odds of bipolar disorder by 1.18 times compared to having two CC copies This study finds evidence for rs2159100 allele T as a factor in schizophrenia.
CACNA1C	Rs80315385	Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
CACNA1D	Rs312481	rs312481 is a SNP in the calcium channel, voltage-dependent, L type, alpha 1D subunit CACNA1D gene.A study of 161 Japanese patients (85 men, 76 women) being treated for hypertension with L-type dCCBs (calcium channel blockers) concluded that individuals with rs312481 (C;C) genotypes responded better, as measured by lowered systolic and diastolic blood pressure readings.
CACNA1D	Rs3774426	rs3774426 is a SNP in the calcium channel, voltage-dependent, L type, alpha 1D subunit CACNA1D gene.A study of 161 Japanese patients (85 men, 76 women) being treated for hypertension with L-type dCCBs (calcium channel blockers) concluded that individuals with rs3774426 (C;C) genotypes responded better, as measured by lowered systolic and diastolic blood pressure readings.
CACNA1G	Rs12603112	/ 23andMe blog each copy of an G at rs12603112 increases the odds of autism in boys by 2.2x, although the G is very common.
CACNA1S	Rs80338779	Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
CACNA1S	Rs28930069	rs28930069, also known as R1239G or Arg1239Gly, is a SNP in the CACNA1S gene on chromosome 1.The rs28930069 (G) allele has been reported in a family study to be the basis for their hypokalemic periodic paralysis, type 1.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
CACNA1S	Rs28930068	rs28930068, also known as R1239H or Arg1239His, is a SNP in the CACNA1S gene on chromosome 1.Carrying one copy of a rs28930068 (A) allele is sufficient to result in patients with hypokalemic periodic paralysis, type 1.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
CACNA1S	Rs1800559	Genetics and pathogenesis of malignant hyperthermia.
CACNA1S	Rs1800559	rs1800559, also known as Arg1086His or R1086H, is a SNP in the CACNA1S gene on chromosome 1.The rs1800559 (A) allele is reported to be associated with malignant hyperthermia, type 5.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
CACNA1S	Rs1800559	Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
CACNB2	Rs11014166	/ 23andMe blog blood pressure.
CACNB2	Rs2799573	In this study, genome-wide SNP data consisting of 1,250,922 autosomal SNPs were analyzed to identify genetic variants associated with autism spectrum disorder, ADHD, bipolar disorder, major depressive disorder, and schizophrenia.
CACNB2	Rs2799573	Although CACNB2 had not been previously identified as a risk gene for schizophrenia and bipolar disorder, its interactor CACNA1C, was known to be a susceptibility gene for bipolar disorder, schizophrenia, and major depressive disorder.
CACNB2	Rs2799573	Other peaks identified in this study were rs2535629 and rs11191454.In addition, a variant within CACNB2 52 kb away from rs2799573 was one of the most significant signals in an independent GWAS of bipolar disorder in Han Chinese.
CACNB2	Rs7076247	C-reactive protein (CRP) protein levels.
CARD11	Rs1064795307	OMIM pathogenic.
CARD11	Rs199692405	The c.171A>G variant is a synonymous variant of no known importance.The A>T and A>C are (in cDNA orientation, not dbSNP orientation) mutations leading to a dominant, mutant protein known as p.Glu57Asp (E57D), which is reported to be pathogenic for an atopic dermatitis, otherwise known as severe eczema.
CARD14	Rs281875212	rs281875212, also known as c.424G>A, p.Glu142Lys and E142K, represents a rare mutation in the CARD14 gene on chromosome 17.This SNP is a CARD14 gain-of-function mutation reported in families with autosomal dominantly inherited psoriasis.
CARD14	Rs281875213	rs281875213, also known as c.425A>G, p.Glu142Gly and E142G, represents a rare mutation in the CARD14 gene on chromosome 17.This SNP is a CARD14 gain-of-function mutation reported in families with autosomal dominantly inherited psoriasis.
CARD14	Rs281875214	rs281875214, also known as c.413A>C, p.Glu138Ala and E138A, represents a rare mutation in the CARD14 gene on chromosome 17.This SNP is one of three CARD14 gain-of-function mutations found through sequencing families exhibiting autosomal dominantly inherited psoriasis.
CARD14	Rs281875215	rs281875215, also known as c.349G>A, p.Gly117Ser and G117S, represents a rare mutation in the CARD14 gene on chromosome 17.This SNP is one of three CARD14 gain-of-function mutations found through sequencing families exhibiting autosomal dominantly inherited psoriasis.
CARD9	Rs4077515	Genetic analysis of innate immunity in Crohns disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
CARD9	Rs4077515	An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
CASP8	Rs1045485	Chronic lymphocytic leukemia rs2266690 rs17028658 rs4505265 rs1045485 rs2779251 rs3136687 showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer No association seen between rs1045485 and colorectal cancer in 4,000 UK cases.
CASP8	Rs13113	rs13113 is a SNP that has been found to significantly decrease the risk of marginal zone lymphoma.
CASP8	Rs3769818	Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
CAV3	Rs116840776	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
CAV3	Rs116840782	Alterations of excitation-contraction coupling and excitation coupled Ca (2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
CAV3	Rs116840785	Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
CAV3	Rs116840788	Two novel CAV3 gene mutations in Japanese families.
CAV3	Rs116840795	A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
CAV3	Rs116840798	The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
CAV3	Rs28936685	Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
CAV3	Rs72546667	Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
CAV3	Rs72546668	Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for double trouble overlapping syndromes.
CBS	Rs5742905	A candidate gene association study of 77 polymorphisms in migraine.
CBS	Rs234715	Significant interaction effects were observed for maternal MTHFR 677 TT, CBS rs234715 GT+TT, and child COMT 472 AA genotypes, with greater risk for autism when mothers did not report taking prenatal vitamins periconceptionally.
CBS	Rs121964972	307S (common in Irish populations) is associated with a more severe form of Homocystinuria and is unresponsive to pyridoxine (vitamin B6) treatment.
CBS	Rs234706	Investigated in Ehlers-Danlos syndrome.
CCDC174	Rs869025342	rs869025342, also known as c.1404A>G, p.Ter468Trp and X468W, is a rare recessive mutation in the CCDC174 gene on chromosome 3 associated with infantile hypotonia with psychomotor retardation.The (unaffected) carrier frequency in Jewish Ethiopian populations is reported to be 1%, and the mutation appears to be a founder mutation shared with the Israeli Arab Bedouin population.For more information, see this news article as well as OMIM 616735.0001.
CCL2	Rs3917887	Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.
CCL2	Rs4586	Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
CCR5	Rs1800452	Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
CCR5	Rs2856758	Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.
CCR5	Rs333	Image:Journal.pbio.0030339.g001.png|thumb|300px|The geographic spread of the allele NEJM suggests decreased risk of type 1 diabetes (odds ratio, 0.54; 95% CI, 0.40 to 0.72; P=1.88x10&#8211;6 with 2 df).
CD244	Rs6682654	The odds ratio reported for the more common rs6682654 (G) allele, as oriented in dbSNP and not the publication, was 1.34 (CI: 1.15-1.55, p = 0.0002).
CD2AP	Rs9349407	Alzheimers disease associated, based on large 2011 study.
CD40	Rs4810485	The targeted validation study looked at 5 SNPs associated with RA in Europeans in 1,113 Korean cases and 988 controls, and found a p-value of 0.39 and an odds ratio of 1.06, suggesting no association between the SNP and RA in Koreans.
CD40	Rs4810485	This study found no association between rs4810485 and RA in patients with Korean ancestry.
CD40	Rs1883832	rs1883832 (T;T) influence lymphoma odds ratio (OR) =1.6, 95% confidence interval (CI) =1.1-2.4.
CD40	Rs4810485	Again, the odds ratio suggests a modest protective affect for the minor allele T.An additional study looked at this SNP and its association with RA in individuals of Korean ancestry.
CD44	Rs353644	Host genetic factors and vaccine-induced immunity to HBV infection: haplotype analysis.
CD44	Rs1467558	After taking Acetaminophen (Tylenol&#174;), rs1467558 (A;G) individuals have higher alanine aminotransferase (ALT) levels, a sign of liver toxicity, than do (G;G) homozygotes.
CD44	Rs2421826	Autism rs1445442 rs2421826 rs1358054 rs722628 rs536861.
CD44	Rs369473842	The absence of the Indian B antigen leads to the IN A/A phenotype, is generally only observed (rarely) in people of Pakistani, Indian or Iranian descent.One appeal for IN A/A donors (of blood type O or A) to help a 2 year old child requiring blood transfusions has been posted by / OneBlood.
CD59	Rs397514767	rs397514767 is a SNP in the CD59 gene on chromosome 11; aka c.266G>A, p.Cys89Tyr or C89Y.A G>A change, when present in two copies, leads to an inherited CD59 deficiency including hemolytic anemia and immune-mediated polyneuropathy.See also OMIM 107271.0002.
CD59	Rs587777149	Heterozygotes were unaffected.
CDH1	Rs587776398	Also known as c.1023T>G, p.Tyr341Ter or Y341X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs864622655	Also known as c.504delA, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs863224505	Also known as c.1064delT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs786203752	Also known as c.2430delT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs786202033	Also known as c.1999delC, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs786201045	Also known as c.1009_1010delAG, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs587783050	Also known as c.1137G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs587783047	Also known as c.187C>T, p.Arg63Ter or R63X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs587780787	Also known as c.2287G>T or p.Glu763Ter, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs587780784	Also known as c.1003C>T, p.Arg335Ter or R335X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs587780113	Also known as c.1565+1G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs35572355	As summarized in this blog post, classifications from eight different labs varied from benign (1 lab) to pathogenic (3 labs) with other labs designating its clinical significance as uncertain.
CDH1	Rs876660771	Also known as c.1137+1G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs16260	PMID 14961571, PMID 16189707 rs16260 (A) SNP located in the promoter region of the E-cadherin CDH1 gene is associated with increased risk of hereditary prostate cancer.The effect appears to be additive, in that compared to the rs16260 (C;C) homozygotes, the rs16260 (A;C) heterozygotes are at about a 1.5 - 1.7 fold increased risk, and the rs16260 (A;A) homozygotes are at about a 2.6 fold increased risk.
CDH1	Rs13689	E-cadherin polymorphisms and susceptibility to arsenic-related skin lesions in West Bengal, India.
CDH1	Rs121964878	Also known as c.1901C>T, p.Ala634Val and A634V, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs121964876	rs121964876, also known as c.70G>T, p.Glu24Ter, E24 and E24X, represents a very rare mutation in the CDH1 gene on chromosome 16.This mutation is reported as pathogenic for hereditary diffuse gastric cancer in OMIM (and therefore in ClinVar), inherited dominantly.23andMe calls rs121964876 by the designation i5004972.
CDH1	Rs121964875	Also known as c.59G>A, p.Trp20Ter or W20X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.The minor allele appears to be quite rare in DTC data.
CDH1	Rs121964874	Also known as c.2095C>T or p.Gln699Ter, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	I5004975	rs116093741 CDH1, gastric cancer.
CDH1	I5004974	rs121964878 CDH1, gastric cancer.
CDH1	I5004971	rs121964875 CDH1, gastric cancer.
CDH1	I5004970	rs786203576 CDH1, gastric cancer.
CDH1	I5004969	rs121964874 CDH1, gastric cancer.
CDH1	Rs1862748	E-cadherin polymorphisms and susceptibility to arsenic-related skin lesions in West Bengal, India.
CDH23	Rs1052484950	OMIM pathogenic.
CDH23	Rs111033270	Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
CDH23	Rs111033271	Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
CDH23	Rs372388344	Aka NM_022124.5 (CDH23) :c.9886G>A or (p.Asp3296Asn) OMIM pathogenic variant.
CDKN1B	Rs34330	Found a significant association between rs34330 (-79C/T) and prostate cancer found higher odds for endometrial cancer among 1,200+ Chinese patients associated with rs34330, with an odds ratio of 1.33 (CI: 1.06-1.66) and 1.51 (CI: 1.16-1.94) for the (C;T) and (T;T) genotypes, respectively, compared with the (C;C) genotype.see also omim 176807.
CDKN2A	Rs3731239	rs3731239 shows a slight protective association against breast cancer in a British study involving ~2300 patients.
CDKN2A	Rs1800586	rs1800586, also known as c.-34G>T, represents a rare mutation in the CDKN2A gene on chromosome 9.The rs1800586 (T) allele is considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere.
CEP290	Rs752197734	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
CEP290	Rs281865192	This mutation is considered the most common LCA mutation in the CEP290 gene.A company, / ProQR Therapeutics, is developing a therapeutic to specifically treat LCA patients carrying Cys998X mutations.Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
CEP290	Rs62638180	Aka c.5813_5817delCTTTA (p.Thr1938Asnfs) Listed in ClinVar but without known significance; listed in the CEP290 database as a truncating deletion, presumably leading to a CEP290-gene related recessively inherited disease.
CETP	Rs1532624	Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Womens Genome Health Study.
CETP	Rs183130	The (C) allele of rs183130 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans.
CETP	Rs1864163	G allele is associated with 4.12mg/dl increase in HDL cholesterol (good cholesterol).
CETP	Rs4783961	Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non-fatal myocardial infarction.
CETP	Rs5882	See Association of a Functional Polymorphism in the Cholesteryl Ester Transfer Protein (CETP) Gene With Memory Decline and Incidence of Dementia and CETP Variant Linked to Slower Cognitive Decline and Reduced Dementia Risk.
CETP	Rs708272	More specifically, a 2014 study by Mehlig et al., ( studying 618 patients with CHD found that the B2B2 genotype, rs708272 (T;T) ), had a reduced risk (odds ratio 0.21) for CHD in intermediate vs low drinkers.
CETP	Rs7499892	Gwas among adults residing on Korcula Island in Croatia, HDL cholesterol, the A allele associated with decreased HDL cholesterol levels<br><br>.
CFAP43	Rs376788209	Aka NM_025145.6 (CFAP43) :c.253C>T or (p.Arg85Trp) OMIM pathogenic variant.
CFAP43	Rs373911488	Aka NM_025145.6 (CFAP43) :c.2802T>A or (p.Cys934Ter) OMIM pathogenic variant.
CFAP44	Rs866096259	Aka NM_001164496.1 (CFAP44) :c.1387G>T or (p.Glu463Ter) OMIM pathogenic variant.
CFH	Rs3753396	Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
CFH	Rs529825	Age related macular degeneration.
CFH	Rs551397	Age related macular degeneration.
CFH	Rs3753394	Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
CFH	Rs572515	rs572515 was the most significantly associated of a group of SNPs in the chromosome 1q32-33 region with risk for neovascular age related macular degeneration (p < 10-6).
CFH	Rs7535263	Age related macular degeneration.
CFH	Rs800292	Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
CFH	Rs2274700	Age related macular degeneration.
CFH	Rs1061170	The rs1061170 (T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170 (C) encodes the His (H).This SNP has been associated primarily with age related macular degeneration, and to a lesser extent, with longevity.This research paper shows that CFH Y402H is the relevant mutation.
CFH	Rs1410996	Age related macular degeneration.
CFH	Rs1329428	Linked to blindness in age related macular degeneration rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428 Significant associations were detected for AMD with rs3753394 rs800292 rs1329428 A haplotype of rs3753394 rs800292 rs1061170 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMDCFH variations appear to contribute to ARMD in Caucasians, but not in Japanese.
CFH	Rs1065489	Each copy of the less common T version of this SNP was associated with about 36% lower odds of meningococcal disease.
CFH	Rs1061170	Age related macular degeneration.
CFH	Rs1061147	Age related macular degeneration.
CFH	Rs1061147	May influence age related macular degeneration (damage to the eye with ageing) when part of the haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC), but does not appear to do so alone.
CFH	Rs203674	Age related macular degeneration.
CFI	Rs141853578	C.355G>A, p.Gly119Arg, G119R This 2013 publication reports that rs141853578 (T) is a rare, highly penetrant dominantly inherited missense mutation in the CFI gene conferring high risk for age-related macular degeneration (ARMD). (p = 3.79 × 10e-6; odds ratio 22.2, CI: 2.98-164.49).More recent publications appear to be coming to a different consensus about this variant - namely, that it is more prevalent than thought, and, that it is less penetrant (i.e.
CFI	Rs10033900	Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
CFTR	I5006055	Cystic Fibrosis rs74597325.
CFTR	I5006083	Cystic Fibrosis rs121909019.
CFTR	I5006048	Cystic Fibrosis rs113993958.
CFTR	I5006049	Cystic Fibrosis rs78655421.
CFTR	I5006050	Cystic Fibrosis rs74551128.
CFTR	I5006053	Cystic Fibrosis rs121908757.
CFTR	I4000325	Cystic Fibrosis rs75039782.
CFTR	I5006054	Cystic Fibrosis rs75527207.
CFTR	I5006056	Cystic fibrosis rs75549581.
CFTR	I5006071	Cystic Fibrosis rs121909012.
CFTR	I5006063	Cystic Fibrosis rs397508393.
CFTR	I5006070	Cystic Fibrosis rs121909011.
CFTR	I5006072	Cystic Fibrosis rs121909013.
CFTR	I5006074	Cystic Fibrosis rs79850223.
CFTR	I5006075	Cystic Fibrosis rs77646904.
CFTR	I5006076	Cystic Fibrosis rs121908754.
CFTR	I5006080	Cystic Fibrosis rs121909017.
CFTR	I4000324	Cystic FibrosisKnown as rs121908789 outside of 23andMe.
CFTR	I5006062	Cystic Fibrosis rs267606722.
CFTR	I4000322	Cystic Fibrosis rs121908747.
CFTR	I5006047	Cystic Fibrosis rs77101217.
CFTR	I4000320	The authors reported that the compound heterozygotes had milder disease phenotype: higher frequency of pancreatic sufficiency, better anthropometric and lung function measure, and lower infection susceptibility.
CFTR	I3000001	Also known as rs113993960 i3000001 is one of 23andMes names for the Cystic Fibrosis Delta F508 mutation.
CFTR	I3002449	Cystic Fibrosis rs1800123.
CFTR	I4000291	Cystic Fibrosis rs74551128.
CFTR	I4000292	Cystic FibrosisII means no mutationsee rs121908745.
CFTR	I4000294	Cystic Fibrosis rs75961395.
CFTR	I4000295	Cystic Fibrosis rs78655421.
CFTR	I4000296	Cystic Fibrosis rs121909011.
CFTR	I4000297	Cystic Fibrosis rs77932196.
CFTR	I4000299	Cystic Fibrosis rs77646904.
CFTR	I4000321	Cystic Fibrosis rs75096551.
CFTR	I4000305	Also known as rs75527207 there is a specific medicine to treat this form of cystic fibrosis.
CFTR	I4000306	Cystic Fibrosis rs74597325.
CFTR	I4000308	Cystic Fibrosis rs74767530.
CFTR	I4000311	Cystic Fibrosis rs80034486.
CFTR	I4000313	Cystic Fibrosisalso known as rs121908769.
CFTR	I4000314	Cystic fibrosissee discussion at rs78756941.
CFTR	I4000316	Cystic Fibrosis rs121908744.
CFTR	I4000317	Cystic Fibrosis rs76713772.
CFTR	I4000318	Cystic Fibrosis rs121908748.
CFTR	I4000301	Cystic Fibrosis rs121908755.
CHAMP1	Rs886041988	Aka c.1850dup (p.Lys618Glufs) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs863225077	Aka c.542_543delCT (p.Ser181Cysfs) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs863225076	Aka c.1044delG (p.Trp348Terfs) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs863225075	Aka c.1544G>A (p.Trp515Ter) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs863225074	Aka c.1969C>T (p.Gln657Ter) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs879255261	Aka c.1002G>A (p.Trp334Ter) Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHAMP1	Rs797044961	Aka c.635delC (p.Pro212Leufs) Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHAMP1	Rs782397980	Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHAMP1	Rs200070245	Aka c.1768C>T (p.Gln590Ter) Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHAMP1	Rs797044963	Aka c.1866_1867delCA (p.Asp622Glufs) Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHAMP1	Rs1131691845	Aka c.403C>T (p.Gln135Ter) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHCHD10	Rs730880031	rs730880031, also known as c.197G>T, p.Gly66Val and G66V, is a rare mutation in the CHCHD10 gene on chromosome 22.As an autosomal dominant, one copy of the rs730880031 (T) allele is reported to be sufficient to lead to the Jokela type of spinal muscular atrophy, which is also known as Late-onset spinal motor neuronopathy (LOSMoN).See also OMIM 615903.0003.
CHEK2	Rs28909982	rs28909982, also known as c.349A>G or p.Arg117Gly, represents a very rare mutation in the CHEK2 gene on chromosome 22.A 2016 publication study involving 42,000 breast cancer cases concluded that rs28909982 (G) carriers had an odds ratio of 2.0 (CI:1.1-3.7; p=0.003).
CHEK2	Rs1805129	This SNP represents a silent polymorphism in the cancer-associated cell cycle regulator CHEK2 gene.
CHEK2	Rs17879961	rs17879961 one of 3 SNPs associated with increased risk of lung cancer.
CHEK2	Rs17879961	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (C).
CHEK2	Rs17879961	This SNP, a variant in the CHEK2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
CHEK2	I4000462	Breast Cancer rs555607708.
CHI3L1	Rs10399805	rs10399805 (T;T) genotype showed a 2.5-fold increase in CHI3L1 mRNA expression in peripheral blood cells than those with (C;C) which is associated with the risk of atopy.
CHI3L1	Rs10399931	Chitinase 3-like 1 gene-329G/A polymorphism, plasma concentration and risk of coronary heart disease in a Chinese population.
CHI3L1	Rs4950928	An attempt to repeat the association between rs4950928 and risk for schizophrenia in an ethnically identical population (Japanese) as well as a new population (Han Chinese) failed to show any significant association.
CHI3L1	Rs6691378	Association of polymorphisms of the CHI3L1 gene with asthma and atopy: a populations-based study of 6514 Danish adults.
CHIT1	Rs2297950	rs2297950 is a single nucleotide polymorphism at position 102 (Gly102Arg) in the chitotriosidase gene which results in chitotriosidase deficiency, implicated in altered defense against chitin containing organisms and in some inflammatory conditions such as inflammatory bowel disease and asthma.
CHM	Rs132630267	Aka c.1497C>A (p.Cys499Ter).
CHRM3	Rs7520974	Associated with specific patterns of brain activity.
CHRM3	Rs2165870	rs2165870 is a SNP in or near the promoter region of the muscarinic acetylcholine receptor 3 subtype CHRM3 gene on ch 1.A GWAS study of 300+ patients exhibiting post-operative nausea found that carriers of rs2165870 (A) alleles were at 2.3x higher risk for nausea (CI: 1.36 - 4, p = 0.002). rs2355230 is said to be a perfect proxy (r2 = 1) for rs2165870.
CHRNA3	Rs1051730	rs1051730 (T;T) individuals respond slower to alcohol, which generally is considered to actually increase their long-term risk of alcohol abuse./ 23andMe blog (T;T) makes it harder to quit smokingPeripheral Artery Disease.
CHRNA3	Rs4887067	Plos Risk Factors for Age-Dependent Nicotine Addiction.
CHRNA3	Rs578776	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
CHRNA3	Rs578776	Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC.
CHRNA3	Rs8042374	Lung cancer rs8042374 P = 7.75 x 10 (-12).
CHRNA3	Rs578776	Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
CHRNA4	Rs1044396	Subjects with the (T;T) genotype showed robust brain activity in the parietal cortex while subjects with the (C;C) genotype showed very little change in activity.
CHRNA4	Rs3787137	Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.
CHRNA5	Rs6495306	rs6495306 increases susceptibility to Substance dependence, Alcohol 1.43 times for carriers of the G allele.
CHRNA5	Rs684513	Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.
CHRNA5	Rs951266	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
CHRNA5	Rs4887067	Plos Risk Factors for Age-Dependent Nicotine Addiction.
CHRNA5	Rs16969968	Associated with smoking phenotype (p=0.007) based on association study of 2,000+ individuals, and functional studies demonstrated that the risk allele decreased response to a nicotine agonist, therefore the rs16969968 (A) allele is likely to be involved in nicotine dependence.In a study 500+ individuals with cocaine dependence, the same rs16969968 (A) allele was associated with a 0.67x decreased risk (p = 0.0045).A study of 200 individuals replicated the association between this SNP and nicotine dependence, and also concluded that the rs16969968 (A) allele was significantly associated with enhanced pleasurable responses to a persons first cigarette./ 23andMe blog 23andMe considers rs1051730 equivalent The association between rs16969968 and lung cancer may, in part, be confounded by chronic obstructive pulmonary disease. rs16969968 increases susceptibility to Substance dependence, Nicotine 1.10 times for heterozygotes (AG) and 1.90 times for homozygotes (AA) plos Risk Factors for Age-Dependent Nicotine Addiction.
CHRNA5	Rs17486278	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
CHRNA7	Rs1355920	Associated with specific patterns of brain activity.
CHRNA7	Rs3087454	Associated with specific patterns of brain activity.
CHRNA7	Rs6494223	A significant association between delusions and the rs6494223 (T) allele (odds ratio 1.63, CI: 1.22-2.17, p = 0.014, ) was found in a cohort of Alzheimers disease patients in Northern Ireland.
CLCN1	I5003253	Myotonia congenita rs121912810.
CLCN1	I5003259	Myotonia congenita rs80356690.
CLCN1	I5003260	Myotonia congenita rs80356696.
CLCN1	Rs121912810	rs121912810, also known as p.Ser189Phe, is a mutation in the CLCN1 gene on chromosome 7.Acting in an autosomal dominant manner, the rs121912810 (T) allele is considered to cause Thomsens myotonia congenita; see also OMIM 118425.0018Note that 23andMe refers to this SNP as i5003253.
CLCN1	Rs80356690	Myotonia levior is a chloride channel disorder.
CLCN1	Rs80356694	Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
CLDN14	Rs786204841	rs786204841, also known as c.694G>A, p.Gly232Arg and G232R, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLDN14	Rs74315437	rs74315437, also known as c.254T>A, p.Val85Asp and V85D, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLDN14	Rs371100799	rs371100799, also known as c.167G>A, p.Trp56Ter and W56, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLDN14	Rs368027306	rs368027306, also known as c.242G>A, p.Arg81His and R81H, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLDN14	Rs219781	Kidney Stones.
CLDN14	Rs219778	DeCode reports that carriers of two T alleles at rs219778 have a slightly increased risk of developing kidney stones.
CLDN14	Rs143797113	rs143797113, also known as c.488C>T and p.Ala163Val, represents an uncommon variant in the CLDN14 gene on chromosome 21.Although initially reported in ClinVar as a variant of unknown significance, the minor rs143797113 (A) is now published as pathogenic for an early (childhood) onset form of deafness when inherited recessively, i.e.
CLDN14	Rs219780	The rs219780 (C;C) genotype is also associated with decreased bone mineral density.
CLDN16	Rs765256758	Aka NM_006580.3 (CLDN16) :c.416C>T or (p.Ala139Val) OMIM pathogenic variant.
CLN3	Rs386833721	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
CLRN1	Rs1085307050	OMIM pathogenic.
CLRN1	Rs111033258	rs111033258, also known as N48K or Asn48Lys, is a SNP in the clarin 1 CLRN1 gene on chromosome 3.Most common in Ashkenazi Jews, the risk allele rs111033258 (G) leads to Usher Syndrome Type III if inherited in two copies.
CNGB3	Rs121918344	rs121918344, also known as S435F or SER322PHE, is a SNP in the cyclic nucleotide-gated channel beta-3 CNGB3 gene.Originally observed in Pingelapese islanders, a condition involving total colorblindness, photophobia, nystagmus, 20/200 visual acuity, yet a normal-appearing retina, was eventually found by sequence analysis to be due to a C-to-T transition causing a serine-to-phenylalanine substitution at amino acid 435 of this (CNGB3) gene.
CNGB3	Rs35365413	Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
CNGB3	Rs3735967	Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
CNGB3	Rs397515360	rs397515360, also known as c.1148delC or p.Thr383IlefsX13, represents a rare mutation in the CNGB3 gene on chromosome 8.Inherited recessively, the rs397515360 (-) deletion allele is considered in ClinVar (and BabySeq) to be pathogenic for achromatopsia.23andMe name: i5012559.
CNTNAP2	Rs10246256	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
CNTNAP2	Rs2538976	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
CNTNAP2	Rs2538991	Reported to be in very tight (r<sup>2</sup>>0.98) linkage with rs2710102, and thus potentially associated with autism.
CNTNAP2	Rs2710117	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
CNTNAP2	Rs371642222	Aka NM_014141.5 (CNTNAP2) :c.3046C>T or (p.Arg1016Ter) OMIM pathogenic variant.
CNTNAP2	Rs4431523	News rs4431523 in CNTNAP2 were significantly associated with the inability of children with typical specific language impairment to process and repeat nonsense words NEJM Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
CNTNAP2	Rs7794745	A common SNP in the CNTNAP2 gene, rs7794745, is associated with increased risk for autism based on a study of 148 affected children from families with two more autistic children.
CNTNAP2	Rs7794745	Related article A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
CNTNAP2	Rs7794745	Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders?.
CNTNAP2	Rs851715	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
COCH	Rs28938175	Deafness.
COCH	Rs1045644	Sequence variants in host cell factor C1 are associated with Menieres disease.
COL11A1	Rs587782990	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
COL11A1	Rs1676486	rs1676486, a SNP also known as c.4603C-->T in the COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH.
COL11A1	Rs1676486	Lumbar disc herniation (LDH), a form of lumbar disc disease, is one of the most common musculoskeletal diseases.
COL1A1	Rs1107946	Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle) : the CUMAGAS-BMD information system.
COL1A1	Rs1800012	rs1800012 (T;T) was significantly (p=0.031, OR=0.08, 95%CI <0.01 to 1.46) under-represented in South African participants with anterior cruciate ligament ruptures, based on a study of ~100 patients vs ~100 controls.Summary relevant to intervertebral disc disease for rs1800012 (T), from : odds ratio (OR) 3.6 for TT genotype compared with GT or GG, in study of 966 elderly Dutch T allele associated with more severe IVDD in study of 75 Southern European male patients vs 25 controls.
COL1A1	Rs1800215	Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
COL1A2	Rs42524	rs42524 is a SNP in the COL1A2 gene.This SNP has been associated with familial intracranial aneurysms (IA) in both Japanese and Chinese populations; in Chinese patients, the odds ratio is 2.579 (CI: 1.48-4.47).
COL2A1	Rs121912880	Aka c.1510G>A (p.Gly504Ser or G504S), also c.1510G>T (p.Gly504Cys or G504C). both are considered in ClinVar as dominantly inherited mutations pathogenic for Spondylometaphyseal dysplasia and/or Stickler syndrome type I.
COL3A1	Rs1057521106	Aka c.811C>T (p.Arg271Ter) Reported in ClinVar as pathogenic for vascular Ehlers-Danlos syndrome, type 4; also observed in a sudden cardiac death patient.
COL3A1	Rs1800255	No significance was found for the heterozygous genotype.A meta-analysis published in 2014 reported that the rs1800255 (A;A) genotype was associated with pelvic organ prolapse (OR 4.79; CI: 1.91-11.98, p =.001) compared with the reference genotype (G;G) in populations of Asian and Dutch women.
COL4A3	Rs121912827	Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
COL4A3	Rs121912826	Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
COL5A1	Rs12722	Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations.
COL5A1	Rs12722	Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.
COL5A1	Rs61735045	rs61735045, also known as c.1588G>A, p.Gly530Ser and G530S, is a variant in the COL5A1 gene on chromosome 9.Two papers published in 2000 and 2002 proposed that carrying one copy of an rs61735045 (A) allele worsened symptoms of Ehlers-Danlos syndrome (EDS) in those who had it due to a causative mutation elsewhere, and that carrying two copies would cause EDS.
COL5A1	Rs61735045	A 2009 publication found that the frequency of the 530S allele was similar (about 5%) in all groups of people they studied, whether healthy or EDS-affected.
COL5A1	Rs61735045	Furthermore, the predicted homozygote minor frequency of 1 in 400 people is much higher than that of classical EDS.
COL5A1	Rs61735045	More recently, ExAC analysis shows an allele frequency of 3.5%, and a minor homozygote frequency of about 1 in 1000, which is still an order of magnitude or more higher than the estimated EDS incidence, incidating that either this allele is benign or the penetrance of even a double mutation is quite low.Additionally, as of 2014, two labs are reporting in ClinVar this variant as benign.
COL9A3	Rs61734651	rs61734651, most commonly known as the Trp3 allele yet technically also known as c.307C>T, p.Arg103Trp and R103W, represents a variant in the COL9A3 gene on chromosome 20.Several studies, albeit older ones and relatively small ones, have linked the rs61734651 (T) allele to somewhat higher risk (odds ratio of ~3) to lumbar disc disease.
COL9A3	Rs35908728	For details, see the entry for lumbar disc disease.
COMT	Rs165599	Anxiety-related personality traits, ADHD, schizophreniapart of a three marker haplotype rs737865 - rs4680 - rs165599 epistasis between SNPs in COMT ( rs2097603, Val158Met ( rs4680 ), rs165599 ) and polymorphisms in other schizophrenia susceptibility genespopular in pubmed is associated with bipolar disorder and influences prefrontal aspects of verbal memory in bipolar patients and healthy controls.
COMT	Rs165631	rs165631, also known as p.L203, represents a synonymous variant in the COMT gene; the minor rs165631 (T) allele has a population allele frequency of 1% (based on exome sequencing of 60,000 individuals).Admittedly based on only a handful of cases, a preliminary report hunting for variants that might delay or prevent breast cancer in women carrying either disease-causing BRCA1 or BRCA2 mutations observed that the rs165631 (T) allele was present in 5 of 15 women with BRCA1/2 mutations (but not breast cancer), while it was not present in any of 25 women with breast cancer (in a different group of women).
COMT	Rs165688	(/ via g2b2mh blog) rs165688 correlated with preferences for immediate reward and brain activation.
COMT	Rs2097603	Gray matter volume and interacts with rs2097603 related to extracellular dopamine.
COMT	Rs4633	Pubmed 1180576 Schizophrenia Susceptibility Genetic basis for individual variations in pain perception and the development of a chronic pain condition.
COMT	Rs4680	Reports that ease of entering hypnosis correlates with number of rs4680 (G) alleles.see gs226 for a report related to impulsiveness and / blog discussion of data about rs4680 thinking about nothing in an fmri.Breast Cancer Risk Modifiers.
COMT	Rs769224	Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response.
COMT	Rs9332377	/ 23andMe blog hearing loss linked to a chemotherapy drug named Cisplatin.
CREB1	Rs4675690	rs2709376 (C), rs2253206 (A), rs7569963 (A), rs7594560 (T), rs4675690 (C) - common haplotype, reduced chance of suicide in males, p = 0.004 rs2709376 (C), rs2253206 (A), rs7569963 (G), rs7594560 (T), rs4675690 (T) - increased chance of suicide in males, p = 0.009 strongly associated with anger expression in male MDD patients A preliminary investigation of the influence of CREB1 gene on treatment resistance in major depression.
CREB1	Rs7569963	Associated with significantly (p = 0.005) increased chance of suicide in a study of 1447 citalopram users (male only subgroup, 539 in total).
CREB1	Rs7569963	rs2709376 (C), rs2253206 (A), rs7569963 (A), rs7594560 (T), rs4675690 (C) - common haplotype, reduced chance of suicide in males, p = 0.004 rs2709376 (C), rs2253206 (A), rs7569963 (G), rs7594560 (T), rs4675690 (T) - increased chance of suicide in males, p = 0.009.
CREBBP	Rs3025684	Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
CRYM	Rs28929490	Deafness.
CSF2RB	Rs11705394	Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia.
CSF2RB	Rs1801117	Association study of CSF2RB with schizophrenia in Irish family and case - control samples.
CSF2RB	Rs2072707	Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia.
CSF2RB	Rs2284031	Schizophrenia|.
CSNK1D	Rs104894561	rs104894561, also known as Thr4Ala or T44A, is a SNP in the casein kinase 1, delta CSNK1D gene.Heterozygotes for rs104894561 have been reported to have a sleep disorder, Familial Advanced Sleep Phase syndrome 2 (FASPS2), and it is therefore considered to be inherited as an autosomal dominant trait.
CTLA4	Rs4553808	This gene encodes the CD152 antigen.A study of 165 Swedish myasthenia gravis patients concluded that the rs4553808 (G;G) homozygotes had an odds ratio of 0.05 (CI: 0.00286-0.874, p=0.0023) for the disease compared to healthy individuals, while the rs4553808 (G) allele showed a less dramatic reduction in risk, with an odds ratio of 0.578 (CI: 0.373-0.897, p=0.015).
CTLA4	Rs3772534	One report based on a study of 480 Danish families indicated that the rs3772534 SNP in the CBLB gene indicated an increased risk for developing type 1 diabetes, and that there might be co-inheritance with the rs3087243 SNP found in the CTLA4 gene.
CTLA4	Rs3087243	rs2292399 and rs2903692 both significantly associated with type 1 diabetes odds ratio 1.37 and 1.28.
CTLA4	Rs231778	(article retracted due to artefact in genotyping).
CTLA4	Rs231725	rs231725 associated with primary biliary cirrhosis.
CTLA4	Rs12992492	Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.
CTLA4	Rs11571316	Associated with type-1 diabetes.
CTNNA2	Rs1007371	Having minor alleles at all 3 of rs1446109 - rs1007371 - rs723524 may affect left-right asymmetrical brain function, such as handedness, and much of human cognition, behavior and emotion.
CTNNA2	Rs11695685	Interleukin 10 (IL10) protein levels.
CTNNA2	Rs1446109	Pdf full paper Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
CTNNA2	Rs723524	Having minor alleles at all 3 of rs1446109 - rs1007371 - rs723524 may affect left-right asymmetrical brain function, such as handedness, and much of human cognition, behavior and emotion.
CTNNA3	Rs2306402	Nominally significant association found for this SNP with late-onset Alzheimers disease (odds ratio 1.18, p=0.024) in a study of ~1000 Caucasian patients, but it would not have withstood statistical correction for multiple testing.
CTNNA3	Rs16922827	Mentioned in retracted.
CTSD	Rs17571	Cathepsin D gene and the risk of Alzheimers disease: a population-based study and meta-analysis.
CUBN	Rs10508517	Diastolic blood pressure being the quantitative trait associated with in.
CUBN	Rs10904849	Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.
CXCR4	Rs2228014	The TT genotype increased 6.5X risk of lung cancer compared with CC genotype in chinese.
CYP17A1	Rs743572	Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Mens Health Study.
CYP17A1	Rs743572	CYP17 gene polymorphisms and prostate cancer risk: a meta-analysis based on 38 independent studies.
CYP17A1	Rs743572	CYP17 gene polymorphisms and prostate cancer risk: A meta-analysis based on 38 independent studies.
CYP17A1	Rs743572	CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).
CYP17A1	Rs104894139	C.1073G>A (p.Arg358Gln) 23andMe name: i5001491.
CYP17A1	Rs104894149	C.1039C>T (p.Arg347Cys) 23andMe name: i5001485.
CYP17A1	Rs104894147	C.340T>G (p.Phe114Val) 23andMe name: i5001487.
CYP17A1	Rs1004467	/ 23andMe blog blood pressure Common variants in or near FGF5, CYP17A1 and MTHFR genes are associated with blood pressure and hypertension in Chinese Hans.
CYP17A1	Rs743572	The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels.
CYP19A1	Rs78310315	Aka c.1310G>A (p.Cys437Tyr) FTDNA & MyHeritage name: VG15S12228.
CYP19A1	Rs727479	A polymorphism at the 3-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole.
CYP19A1	Rs727479	Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.
CYP19A1	Rs727479	Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.
CYP19A1	Rs727479	Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.
CYP19A1	Rs700518	rs700518 is a SNP potentially linked in a gender-specific manner to hypertension.
CYP19A1	Rs4775936	Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
CYP19A1	Rs4646	Based on a meta-analysis of (only) two studies, one involving treatement with letrozole and the other anastrozole, rs4646 (A) allele carriers with metastatic breast cancer showed a greater time to progression (TTP) compared to rs4646 (C;C) patients, indicating overall a possible benefit to being an (A) allele carrier.
CYP19A1	Rs3751591	Associated with age at natural menopause.
CYP19A1	Rs28566535	Increased risk of breast cancer with concurrent proliferative fibrocystic conditions rs1004982 (C) 2.19 (1.24-3.85) rs28566535 (C) 2.20 (1.27-3.82) rs936306 (T) 1.94 (1.13-3.30) rs4775936 (C) 1.95 (1.07-3.58).
CYP19A1	Rs2470144	A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis.
CYP19A1	Rs17703883	The research paper suggests that the 3 snps rs17703883, rs12594287 and rs16964201 affect bone mineral density in men.
CYP19A1	Rs16964201	The research paper suggests that the 3 snps rs17703883, rs12594287 and rs16964201 affect bone mineral density in men.
CYP19A1	Rs12594287	The research paper suggests that the 3 snps rs17703883, rs12594287 and rs16964201 affect bone mineral density in men.
CYP19A1	Rs1008805	The presence of at least one G allele at rs1008805 was significantly associated with an increase in the risk of breast cancer (OR = 1.72 95% CI, 1.20-2.49), especially with estrogen and progesterone receptor negative breast cancer (OR = 3.89 1.74-8.70 and OR = 2.52 1.26-5.05, respectively).
CYP19A1	Rs1004984	CYP19A1 genetic polymorphisms may be associated with obesity related phenotypes in Chinese women.
CYP19A1	Rs1004982	Increased risk of breast cancer with concurrent proliferative fibrocystic conditions rs1004982 (C) 2.19 (1.24-3.85) rs28566535 (C) 2.20 (1.27-3.82) rs936306 (T) 1.94 (1.13-3.30) rs4775936 (C) 1.95 (1.07-3.58).
CYP19A1	Rs10046	Anastrozole Use in Early Stage Breast Cancer of Post-Menopausal Women.
CYP19A1	Rs10046	Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.
CYP19A1	Rs2470152	rs2470152 is clearly associated with serum E2 and E1 levels in men, influencing risk of many conditions including prostate cancer, breast cancer and osteoporosis.
CYP1A2	Rs762551	More coffee led to increased nonfatal heart attack risk.
CYP1A2	Rs35694136	rs35694136, also known as -2467delT, is a SNP in the CYP1A2 gene.The rs35694136 (-) allele defines the CYP1A2 1D variant.
CYP1A2	Rs72547513	Two subsequent theoretical studies provide hypotheses for why this change results in lowered activity.,.
CYP1A2	Rs2470890	Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
CYP1A2	Rs2069526	rs2069526 is a SNP in the CYP1A2 gene.The rs2069526 (T) allele defines the CYP1A2 1K_-739T>G variant.
CYP1A2	Rs28399424	rs28399424, also known as 5090C>T or R431W, is a SNP in the CYP1A2 gene.The rs28399424 (T) allele defines the CYP1A2 6 decreased activity variant.
CYP21A2	Rs7755898	However, a random survey of 10 publicly uploaded genomes showed all 10 to be carriers.
CYP21A2	I5005437	Congenital adrenal hyperplasia rs9378252.
CYP21A2	I5005434	Congenital adrenal hyperplasia rs151344506.
CYP21A2	Rs6467	The allele with impaired function, rs6467 (C), is the CYP21A2 9 allele.See further details at congenital adrenal hyperplasia.
CYP21A2	I5005430	Congenital adrenal hyperplasia rs72552758.
CYP21A2	I5005427	Congenital adrenal hyperplasia rs151344503.
CYP21A2	I5005425	Congenital adrenal hyperplasia rs72552754.
CYP21A2	I5005433	Congenital adrenal hyperplasia rs151344505.
CYP2A6	Rs28399444	rs28399444 is a truncated non-functioning variant of CYP2A6 known as CYP2A6 20.
CYP2A6	Rs28399454	CYP2B6 (c.516G-->T) and CYP2A6 ( 9B and/or 17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients.
CYP2A6	Rs5031017	Unfortunately, this group also had a lower likelihood of smoking cessation.Smoking.
CYP2B6	Rs2279343	Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.
CYP2B6	Rs3745274	Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.
CYP2C19	Rs57081121	rs57081121 (A) is an allele defining the CYP2C19 3 form of this cytochrome p450.As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).
CYP2C19	Rs6413438	This allele may lead to reduced metabolism of S-mephenytoin at least in vitro.
CYP2C19	Rs56337013	The rs56337013 (T) allele defines the CYP2C19 variant known as CYP2C19 5.This variant is quite rare (< 1% of Caucasians or Chinese), and leads to a poor metabolizer phenotype.
CYP2C19	Rs12248560	The theory is that ultra fast metabolism of estrogen leads to lower estrogen levels and lower breast cancer risk.Clopidogrel Efficacy.
CYP2C19	Rs4986893	PMID 7969038, PMID 9093256The risk allele is rs4986893 (A).As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).Clopidogrel Efficacy.
CYP2C19	Rs4244285	A study of 1,477 subjects with acute coronary syndromes who were treated with clopidogrel as part of the Trial to Assess Improvement in Therapeutic Outcomes by Optimizing Platelet Inhibition with Prasugrel-Thrombolysis in Myocardial Infarction (TRITON-TIMI) 38 study concluded that rs4244285 (A) allele carriers had a 1.53x increased risk for death from cardiovascular causes, myocardial infarction, or stroke, as compared with noncarriers (12.1% vs. 8.0%; CI: 1.07-2.19, p=0.01) and were at 3x higher risk of stent thrombosis (2.6% vs. 0.8%; CI: 1.19-8.00, p=0.02).
CYP2C19	Rs55752064	The rs55752064 (C) SNP defines the CYP2C19 allele known as CYP2C19 14, also known as L17P.
CYP2C8	Rs1113129	Role of cytochrome P450 2C8 and 2J2 genotypes in calcineurin inhibitor-induced chronic kidney disease.
CYP2C8	Rs11572080	It is claimed that individuals carrying minor alleles of this SNP (usually heterozygotes, since minor homozygotes are rare) may show increased risk of developing acute gastrointestinal bleeding during the use of NSAIDs that are CYP2C8 or CYP2C9 substrates, such as aceclofenac, celecoxib, diclofenac, ibuprofen, indomethazine, lornoxicam, meloxicam, naproxen, piroxicam, tenoxicam and valdecoxib.
CYP2C8	Rs1934951	(T;T) associated with a higher risk of osteonecrosis of the jaw in am small study of multiple myeloma patients under bisphosphonate therapy.
CYP2C8	Rs1934980	Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.
CYP2C8	Rs3832694	Cytochrome P450 2C8: a review of clinical studies.
CYP2C9	Rs56165452	rs56165452, also known as 1076T>C, 42615T>C or I359T, is a SNP in the CYP2C9 gene.The rs56165452 (C) allele defines the CYP2C9 4 variant, which has decreased activity.
CYP2C9	Rs72558188	rs72558188, also known as 353_362delAGAAATGGAA or 118Frameshift, is a SNP in the CYP2C9 gene.The rs72558188 (-) allele defines the CYP2C9 25 variant, which is inactive.
CYP2C9	Rs72558187	rs72558187, also known as 269T>C, 3276T>C or L90P, is a SNP in the CYP2C9 gene.The rs72558187 (C) allele defines the CYP2C9 13 variant, which has decreased activity.
CYP2C9	Rs7089580	Associations with higher warfarin dose, namely, VKORC1-8191 ( rs61162043, P = 0.0041) and 18786 in CYP2C9 ( rs7089580, P = 0.035) independent of the previous associations with these genes.
CYP2C9	Rs4086116	A genome-wide association study of acenocoumarol maintenance dosage.
CYP2C9	Rs1057910	Note however that the / CPIC (and FDA) recommend testing for the HLA-B 15:02 allele, since carriers are at significantly increased risk of Stevens-Johnson syndrome (SJS/PTEN).
CYP2C9	Rs2256871	rs2256871, also known as 752A>G, 10535A>G or H251R, is a SNP in the CYP2C9 gene.The rs2256871 (C) allele defines the CYP2C9 9 variant.
CYP2C9	Rs12572351	Distribution of variant alleles association with warfarin pharmacokinetics and pharmacodynamics in the Han population in China.
CYP2C9	Rs28371685	rs28371685, also known as 1003C>T, 42542C>T or R335W is a SNP in the CYP2C9 gene.The rs28371685 (T) allele defines the CYP2C9 11 variant, which has decreased activity.According to / a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009.
CYP2C9	Rs2017319	Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
CYP2D6	Rs5030865	This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing.
CYP2D6	Rs5030865	rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6 8 and CYP2D6 14.
CYP2D6	Rs5030655	CYP2D6 poor metabolism may affect the efficacy or degree of side effects of drugs metabolized by CYP2D6, such as dextromorphan, sparteine, nortriptyline, venlafaxine and codeine.
CYP2D6	Rs5030655	The associated allele is also known as CYP2D6 6, and there are several subtypes but they are all nonfunctional.If two copies of this (or similar) changes are inherited, CYP2D6 poor metabolism (PM) is observed.
CYP2D6	Rs3892097	These CYP2D6 4/ 4 homozygotes have the poor metabolizer (PM) phenotypes, and had adjusted heart rates that were 8.5 beats/min lower compared with 1/ 1 extensive metabolizers (EMs) (p < 0.001), leading to an increased risk of bradycardia in PMs (odds ratio of 3.86, CI: 1.68-8.86, p = 0.0014).
CYP2D6	Rs3892097	rs3892097 (A;A) patients taking a beta blocker drug such as metoprolol are at ~4x increased risk for bradycardia, based on a study of 1,533 patients in the Rotterdam Study.
CYP2D6	Rs34167214	A variation near CYP2D6.
CYP2D6	Rs5030656	rs5030656, also known as 2615_2617delAAG or K281del, is a SNP in the CYP2D6 gene.The rs5030656 (-) allele defines the CYP2D6 9 variant, which has decreased activity.
CYP2D6	Rs28360521	Little is known of the significance of either allele.
CYP2D6	Rs1135824	G allele indicates CYP2D6 3B non-functioning variant.
CYP2D6	Rs1080987	A variation near CYP2D6.
CYP2D6	Rs1080985	Replication Study to Confirm the Role of CYP2D6 Polymorphism rs1080985 on Donepezil Efficacy in Alzheimers Disease Patients.
CYP2D6	Rs1065852	Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy.
CYP2D6	Rs1065852	Genotyping panel for assessing response to cancer chemotherapy.
CYP2D6	Rs1065852	Other drugs metabolized by CYP2D6 include dextromorphan, sparteine, nortriptyline, atomoxetine, and codeine.Nakamura et al suggest that thermal instabilities and reduced intrinsic clearance by the protein encoded by the rs1065852 (T) allele are the main reasons Asians show lower metabolic activities than Caucasians for drugs metabolized mainly by CYP2D6, since this (T) allele occurs in higher frequency in Asians.A study of several hundred Chinese breast cancer patients treated with either tamoxifen or toremifene reported that for the 50 women who were CYP2D6 10 homozygotes (i.e.
CYP2D6	Rs28371706	rs28371706, also known as 1023C>T or T107I, is a SNP in the CYP2D6 gene.The rs28371706 (T) allele is found in several CYP2D6 variants: CYP2D6 17 decreased activity variant CYP2D6 40 non-functioning variant CYP2D6 58 variant CYP2D6 64 variant.
CYP2R1	Rs10741657	The A allele of CYP2R1 rs10741657 was associated with increased 25 (OH) D levels in a study of vitamin D levels and MS risk in 1,655 cases and 6,349 controls.
CYP3A4	Rs4646437	CYP3A7, CYP3A5, CYP3A4, and ABCB1 genetic polymorphisms, cyclosporine concentration, and dose requirement in transplant recipients.
CYP3A4	Rs67666821	As of 2006, it was the only CYP3A4 SNP with a known functional consequence..Carriers of one rs67666821 (T) allele have an intermediate CYP3A4 metabolizer phenotype, and might be susceptible to side effects during drug therapy with substrates or inhibitors of CYP3A4 such as acetaminophen, codeine, cyclosporin A, diazepam and erythromycin.
CYP3A4	Rs4986909	rs4986909, also known as 1247C>T, 22026C>T or P416L, is a SNP in the CYP3A4 gene.The rs4986909 (T) allele defines the CYP3A4 13 variant.
CYP3A4	Rs4646438	rs4646438, also known as 830_831insA, 17661_176622insA or 277Frameshift, is a SNP in the CYP3A4 gene.The rs4646438 (A) allele defines the CYP3A4 6 variant.
CYP3A4	Rs3208361	rs3208361 is a SNP in the CYP3A4 gene.The rs3208361 (G) allele defines the CYP3A4 _15635A>G (I193V) variant.
CYP3A4	Rs3091339	rs3091339 is a SNP in the CYP3A4 gene.The rs3091339 (G) allele defines the CYP3A4 _11460A>G (K96E) variant.
CYP3A4	Rs2740574	The authors note that CYP3A4 encodes a key enzyme in estrogen metabolism and which may be linked to ovarian carcinogenesis.
CYP3A4	Rs12721634	rs12721634, also known as 44 T>C or L15P, is a SNP in the CYP3A4 gene.The rs12721634 (C) allele defines the CYP3A4 14 variant.
CYP3A4	Rs1041988	rs1041988 is a SNP in the CYP3A4 gene.The rs1041988 (C) allele defines the CYP3A4 _23139T>C (I431T) variant.
CYP3A5	Rs28365083	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
CYP3A5	Rs28365083	Genotyping panel for assessing response to cancer chemotherapy.
CYP3A5	Rs28365085	rs45593941, also known as L82R, is a SNP in the CYP3A5 gene.The rs45593941 (T) allele defines the CYP3A5 3F variant, which is nonfunctional.
CYP3A5	Rs28383468	rs28383468, also known as 3705C>T or H30Y, is a SNP in the CYP3A5 gene.The rs28383468 (T) allele defines the CYP3A5 H30Y variant, which is nonfunctional.
CYP3A5	Rs28383479	rs28383479, also known as 19386G>A, is a SNP in the CYP3A5 gene.The rs28383479 (A) allele defines the CYP3A5 9 variant, which is nonfunctional.
CYP3A5	Rs41303343	rs41303343, also known as 27131_27132insT, is a SNP in the CYP3A5 gene.The rs41303343 (T) allele defines the CYP3A5 7 variant, which is nonfunctional and has the highest prevalence in those of African descent (where ~8% of the population are carriers).Note that the scientific literature (and PharmGKB, among other sources) often incorrectly reports a different SNP ( rs76293380 ) as defining the CYP3A5 7 allele.
CYP3A5	Rs56411402	Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population.
CYP3A5	Rs56411402	Genetic polymorphism of cytochrome P450 3A5 in Chinese.
CYP4V2	Rs1055138	Initially reported in ClinVar as pathogenic, two subsequent reviews have concluded this variant is benign.
DAOA	Rs947267	Showed that rs947267 was significantly associated with schizophrenia rs778294 and rs947267 associated with the risk of schizophrenia, however rs947267, showed an opposite direction of genetic effect on schizophrenia risk here than in a previous study.
DBH	Rs739398	Aggressive behavior, related conduct problems, and variation in genes affecting dopamine turnover.
DBH	Rs2519152	Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans.
DBH	Rs6271	Aka c.1645C>T, p.Arg549Cys and R549C An in vitro functional study concluded that rs6271 (R549C) exhibited both decreased homospecific activity and differential secretion compared to a wild-type (normal) control.
DBT	Rs12021720	A Japanese patient with the intermediate form of maple syrup urine disease 2 showed a compound heterozygote for both the apparently causative C->G transversion at nucleotide 309 DBT gene (I37M) this G->A transition in exon 9 (G323S) which with no obvious consequences.
DCC	Rs17468382	Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinsons disease.
DCC	Rs2270954	This SNP is located within the 3 untranslated region, an area known to contain a number of regulatory sequences that determine the stability and translation efficacy of mRNA.
DCDC2	Rs793862	The risk allele in the Caucasian populations studied is (A).One study reports that the odds ratio for rs793862 genotypes increases if calculated from subsets of more severely dyslexic individuals as compared to more heterogenous, larger groups of dyslexic individuals.
DCDC2	Rs793862	This SNP was also reported to be significantly associated in a linkage study of dyslexic individuals.
DCHS1	Rs768737101	rs768737101, also known as c.6988C>T, p.Arg2330Cys and R2330C, is a mutation in the DCHS1 gene on chromosome 11.Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs768737101 mutation.
DCHS1	Rs757309797	The other mutation was rs863223797, located in the TGFB2 gene and considered pathogenic by some sources for thoracic aortic aneurysm.
DCHS1	Rs201457110	Acting as an autosomal dominant, the rs201457110 (T) allele was reported to be a causative mutation for MVP.
DCHS1	Rs201457110	rs201457110, also known as c.7538G>A, p.Arg2513His and R2513H, is a mutation in the DCHS1 gene on chromosome 11.Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs201457110 mutation.
DDC	Rs921451	Associated after correction for multiple testing in European Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs3757472 (G), which showed a sig.
DDC	Rs921451	(2005) found two different DDC haplotypes associated with nicotine dependence in African Americans and European Americans (with measures of smoking quantity SQ, heaviness of smoking index HSI, and the Fagerstrom test for ND FTND) in African Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs2060762 (G), all three measures sig.
DDC	Rs3757472	Associated after correction for multiple testing in European Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs3757472 (G), which showed a sig.
DDC	Rs3757472	(2005) found two different DDC haplotypes associated with nicotine dependence in African Americans and European Americans (with measures of smoking quantity SQ, heaviness of smoking index HSI, and the Fagerstrom test for ND FTND) in African Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs2060762 (G), all three measures sig.
DDC	Rs3735273	Associated after correction for multiple testing in European Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs3757472 (G), which showed a sig.
DDC	Rs3735273	(2005) found two different DDC haplotypes associated with nicotine dependence in African Americans and European Americans (with measures of smoking quantity SQ, heaviness of smoking index HSI, and the Fagerstrom test for ND FTND) in African Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs2060762 (G), all three measures sig.
DDC	Rs2329340	A haplotype consisting of rs2329340 (A), rs11974297 (C), rs2044859 (T) and rs11761683 (G) associated with increased incidence of migraine with aura among a sample of 528 migraine patients (308 without aura, 220 with aura) and 528 sex-matched migraine-free controls Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.
DDC	Rs1451371	Associated after correction for multiple testing in European Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs3757472 (G), which showed a sig.
DDC	Rs2060762	(2005) found two different DDC haplotypes associated with nicotine dependence in African Americans and European Americans (with measures of smoking quantity SQ, heaviness of smoking index HSI, and the Fagerstrom test for ND FTND) in African Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs2060762 (G), all three measures sig.
DDC	Rs2044859	A haplotype consisting of rs2329340 (A), rs11974297 (C), rs2044859 (T) and rs11761683 (G) associated with increased incidence of migraine with aura among a sample of 528 migraine patients (308 without aura, 220 with aura) and 528 sex-matched migraine-free controls.
DDC	Rs1451371	(2005) found two different DDC haplotypes associated with nicotine dependence in African Americans and European Americans (with measures of smoking quantity SQ, heaviness of smoking index HSI, and the Fagerstrom test for ND FTND) in African Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs2060762 (G), all three measures sig.
DDC	Rs11974297	A haplotype consisting of rs2329340 (A), rs11974297 (C), rs2044859 (T) and rs11761683 (G) associated with increased incidence of migraine with aura among a sample of 528 migraine patients (308 without aura, 220 with aura) and 528 sex-matched migraine-free controls.
DDC	Rs11761683	A haplotype consisting of rs2329340 (A), rs11974297 (C), rs2044859 (T) and rs11761683 (G) associated with increased incidence of migraine with aura among a sample of 528 migraine patients (308 without aura, 220 with aura) and 528 sex-matched migraine-free controls.
DDC	Rs2060762	Associated after correction for multiple testing in European Americans, rs921451 (T), rs3735273 (G), rs1451371 (T), rs3757472 (G), which showed a sig.
DDX3Y	Rs796483281	23andMe name: i4000101.
DGKE	Rs138924661	Aka c.966G>A, p.Trp322Ter, W322X or W322 ClinVar indicated likely pathogenic for atypical hemolytic uremic syndrome, also known as nephrotic syndrome type 7, listed in OMIM as a recessively inherited condition; in, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).
DHCR7	Rs28938174	Aka c.356A>T (p.His119Leu or H119L). note that c.356A>G (p.His119Arg) is also a known variant for rs28938174, however, its significance is uncertain (whereas c.356A>T is pathogenic for SLO).
DHCR7	Rs11555217	Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
DHCR7	Rs138659167	Note that c.964-1G>T is also a reported variant for this rsID, and it is also reported in ClinVar as pathogenic for SLO syndrome.
DHDDS	Rs764831063	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
DHODH	Rs3213422	The frequency of remission from rheumatoid arthritis upon leflunomide treatment was increased in rs3213422 (C) allele carriers compared with patients with the A allele in a study of 147 patients.
DISC1	Rs751229	rs751229 (T) and rs3738401 (A) was over-transmitted to males with psychotic disorder.
DISC1	Rs821633	The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes.
DISC1	Rs821577	The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes.
DISC1	Rs751229	Under-transmitted rs821616 (T) and rs1411771 (T) The risk haplotype for psychotic disorder also associated to perseverations (P = 0.035; for rs751229 alone P = 0.0012), and a protective haplotype G-T-G with rs1655285 in addition to auditory attention (P = 0.0059).
DISC1	Rs6675281	Linked to schizophrenia.
DISC1	Rs3738402	Association study of polymorphisms between DISC1 and schizophrenia in a Korean population.
DISC1	Rs3737597	Schizophrenia minor allele of rs3737597 (frequency 2%) Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
DISC1	Rs1538979	Schizophrenia and bipolar disorder rs1538979 (P=0.016; odds ratio=2.73+/-95% confidence interval (CI) 1.42-5.27) and rs821577 (P=0.040; odds ratio=1.64+/-95% CI 1.23-2.19).
DISC1	Rs1411771	Under-transmitted rs821616 (T) and rs1411771 (T) The risk haplotype for psychotic disorder also associated to perseverations (P = 0.035; for rs751229 alone P = 0.0012), and a protective haplotype G-T-G with rs1655285 in addition to auditory attention (P = 0.0059).
DISC1	Rs1411771	rs751229 (T) and rs3738401 (A) was over-transmitted to males with psychotic disorder.
DISC1	Rs1322784	rs1322784, an intragenic SNP associated with the disrupted in schizophrenia DISC1 gene, was reported to be associated with aspergers syndrome This same study also implicated the HEP3 haplotype in aspergers syndrome.
DISC1	Rs3738401	rs751229 (T) and rs3738401 (A) was over-transmitted to males with psychotic disorder.
DNAI1	Rs1060503515	Aka c.1188delC (p.Tyr397Thrfs).
DNAI1	Rs397515363	Aka c.48+2dupT (p.Ser17ValfsTer12) This SNP may represent the most common DNAI1 gene mutation associated with primary ciliary dyskinesia.
DNAJB11	Rs1553850185	C.230T>C (p.Leu77Pro or L77P).
DNAJB11	Rs1351138670	C.479delC (p.Ala160Glufs).
DNM1	Rs3003609	rs3003609 is a SNP in the dynamin 1 DNM1 gene.The (T) allele of rs3003609 is associated with heavier smoking and thus nicotine dependence, at least in Caucasians though perhaps not African-Americans, based on a study of 600+ families.
DNM1	Rs2502731	Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans.
DNM2	Rs892086	Carriers with late-onset Alzheimers disease who have rs892086 (T;T) genotypes appear to have less DNM2 mRNA in their brains, according to a study of 429 Japanese patients, and among non-ApoE4 carriers, appear to be at increased risk for developing Alzheimers disease.
DNMT3A	Rs11887120	829 Caucasian cases with primary epithelial ovarian cancer and 941 frequency-matched unaffected controls Three SNPs in DNMT3A were associated with risk among multivitamin supplement users: 3 untranslated region (UTR) C>G ( rs13420827 : OR, 0.8; 95% CI, 0.6-1.0; P interaction = 0.006; FPRP = 0.54) intron 6 G>A ( rs11887120 : OR, 0.8; 95% CI, 0.7-1.0; P interaction = 0.007; FPRP = 0.57) intron 22 A>T ( rs11695471 : OR, 1.2; 95% CI, 1.0-1.5; P interaction = 0.01; FPRP = 0.66).
DNMT3A	Rs13420827	829 Caucasian cases with primary epithelial ovarian cancer and 941 frequency-matched unaffected controls Three SNPs in DNMT3A were associated with risk among multivitamin supplement users: 3 untranslated region (UTR) C>G ( rs13420827 : OR, 0.8; 95% CI, 0.6-1.0; P interaction = 0.006; FPRP = 0.54) intron 6 G>A ( rs11887120 : OR, 0.8; 95% CI, 0.7-1.0; P interaction = 0.007; FPRP = 0.57) intron 22 A>T ( rs11695471 : OR, 1.2; 95% CI, 1.0-1.5; P interaction = 0.01; FPRP = 0.66).
DNMT3A	Rs11695471	829 Caucasian cases with primary epithelial ovarian cancer and 941 frequency-matched unaffected controls Three SNPs in DNMT3A were associated with risk among multivitamin supplement users: 3 untranslated region (UTR) C>G ( rs13420827 : OR, 0.8; 95% CI, 0.6-1.0; P interaction = 0.006; FPRP = 0.54) intron 6 G>A ( rs11887120 : OR, 0.8; 95% CI, 0.7-1.0; P interaction = 0.007; FPRP = 0.57) intron 22 A>T ( rs11695471 : OR, 1.2; 95% CI, 1.0-1.5; P interaction = 0.01; FPRP = 0.66).
DOCK7	Rs267606655	rs267606655, also known as c.50_51delCCinsGA and p.Ser17Ter, represents a rare loss of function variant in the ANGPTL3 gene on chromosome 1.As a loss of function variant, the minor allele leads to lower amounts of ANGPTL3 protein, lowered triglycerides and LDL cholesterol, and according to several studies, a lowered risk (by about 40%) of developing coronary artery disease.
DOCK7	Rs398122987	ANGPTL3, c.439_442delAACT (p.Asn147Terfs).
DPP6	Rs10239794	rs10239794, a SNP in the region of the DPP6 gene on chromosome 7, has been associated with the sporadic form of ALS (Lou Gehrigs disease) in a 2008 study of 1000+ European patients.
DPP6	Rs10239794	A CC haplotype for this SNP and that of its neighbor rs10260404 is also highly (statistically; p=10e-9) associated with ALS.
DPP6	Rs10239794	However, a subsequent publication was unable to replicate the association with rs10260404, and to our knowledge, in the years since 2008 there has not been a report replicating the association of rs10239794 with ALS.
DPP6	Rs10260404	When broken down by genotype, the odds ratios for heterozygotes are 1.20 (CI: 1.06-1.41), and for rs10260404 (C;C) homozygotes, 1.60 (CI: 1.32-1.92).A C-C haplotype for this SNP and that of its neighbor rs10239794 is also highly (statistically; p=10e-9) associated with ALS.
DPP6	Rs3807218	Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.
DPYD	Rs3918290	23andMe reports that the A allele of rs3918290 is associated with the rare recessive disorder dihydropyrimidine dehydrogenase deficiency (DPD), also known as hereditary thymine-uraciluria or familial pyrimidinemia.
DPYD	Rs1801160	rs1801160, also known as V732I or p.Val732Ile, is a variant in the DPYD gene on chromosome 1.A pharmacogenetic study of ~1,500 colon cancer patients treated with a 5-fluorouracil regimen concluded that patients with a rs1801160 (A) allele were at roughly a 2-fold higher risk for an adverse effect (from the fluorouracil).
DPYD	Rs55886062	rs55886062, also known as c.1679 T>G, encodes the DPYD 13 allele of the DPYD gene on chromosome 1.Note that the terms used in the literature for this gene can be confusing, since the gene is in reverse orientation to the chromosome strand on the reference genome.
DRD3	Rs167771	rs167771 was significantly associated with autism spectrum disorder in a study of 144 patients.
DRD4	Rs11246226	The C allele was associated with an decreased risk of schizophrenia.
DRD4	Rs1800955	Association and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics.
DRD4	Rs4331145	Associated with schizophrenia in a study of Croatians.
DRD4	Rs4331145	The G allele was associated with a decreased risk of schizophrenia.
DRD4	Rs554375713	rs554375713 designates a variant consisting of a 13-bp deletion of bases 235 to 247 in exon 1 of the DRD4 gene on chromosome 11.
DRD4	Rs587776842	Heterozygous individuals are not reported to be symptomatic.
DRD4	Rs747302	rs747302, also known as -616 C/G, is a variant in the promoter upstream of the DRD4 gene on chromosome 11.
DRD4	Rs916457	Association and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics.
DSP	Rs140474226	Aka c.4180C>T (p.Gln1394Ter) Reported in ClinVar as pathogenic for dilated cardiomyopathy and likely pathogenic for arrhythmogenic right ventricular dysplasia; also reported in a sudden cardiac death patient.
DSP	Rs2076295	TERT and TERC are involved in the maintenance of telomere lengths, and mutations in these genes are associated with shortened telomeres in the alveolar epithelia.The recently discovered association with the DSP locus suggests that changes in cell-cell adhesion may also play a role in IIP.
DSP	Rs28931610	rs28931610, also known as R2366C or Arg2366C, is a SNP in the desmoplakin DSP gene on chromosome 6.The disabling keratoderma known as skin fragility-woolly hair syndrome (SFWHS) can be caused by either inheriting two copies of the rs28931610 (T) allele or one copy plus another DSP gene mutation on the other chromosomal strand.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
DSPP	Rs28929492	Deafness.
DTNA	Rs104894654	rs104894654, also known as c.362C>T, p.Pro121Leu and P121L, is a rare mutation in the DTNA gene on chromosome 18.Inherited as an autosomal dominant, it reportedly leads to left ventricular noncompaction.See OMIM 601239.0001.
DTNBP1	Rs1018381	/ g2b2mh blog In a population of healthy individuals, those that carry common variants (such as rs760761, rs1018381, rs2619522 ) located in the dysbindin (DTNBP1) gene, a risk factor for schizophrenia, show minor cognitive impairments such as decreased attentional capacity, worse performance on memory tasks, and alterations in schizotypal beliefs and experiences.
DTNBP1	Rs2619522	/ g2b2mh blog In a population of healthy individuals, those that carry common variants (such as rs760761, rs1018381, rs2619522 ) located in the dysbindin (DTNBP1) gene, a risk factor for schizophrenia, show minor cognitive impairments such as decreased attentional capacity, worse performance on memory tasks, and alterations in schizotypal beliefs and experiences.
DTNBP1	Rs742105	May be associated with clozapine response in treatment-resistant schizophrenic patients.
DTNBP1	Rs760761	Association study of candidate variants from brain-derived neurotrophic factor and dystrobrevin-binding protein 1 with neuroticism, anxiety, and depression.
DTNBP1	Rs760761	Dysbindin gene (DTNBP1) in major depression: association with clinical response to selective serotonin reuptake inhibitors.
DTNBP1	Rs909706	May be associated with haloperidol response in treatment-resistant schizophrenic patients.
DYRK1B	Rs367643250	rs367643250, aka R102C, is a SNP in the DYRK1B gene on chromosome 19.A study of three large families with coinheritance of early-onset coronary artery disease, central obesity, hypertension, and type-2 diabetes led to the conclusion that the responsible mutation was a C>T change (on the reverse strand) for this SNP, leading to a missense change from an arginine (R) at amino acid position 102 to a cysteine (C).
EDAR	Rs260643	This SNP is associated to straight/curly hair.
EDAR	Rs365060	They found that each (C) allele is associated with ~25% denser beard growth.
EDAR	Rs3827760	Gnxp hair thickness for asians gnxp blog tooth shape among asiansA picture of shovel shaped incisors is at /== Publications ==.
EDN1	Rs587777231	See OMIM 131240.0002.
EDN1	Rs5370	rs1801253 with increased susceptibility to edema (P=0.034) rs5370 (T;T) genotypes were the factor most significantly associated with reduced risk of diabetic retinopathy (odds ratio = 0.19, CI: 0.07-0.53; p=0.002) and with later onset of type-2 diabetes ( (T;T) : 59 years; (G;G) and (G;T) : 53 years; p=0.02), in a Chinese population of diabetics.High Blood Pressure (Hypertension).
EDNRB	Rs5351	In 630 patients with essential hypertension (EHT) among males significant differences in rs5351 and rs5333 influencing atherosclerosis.
EGF	Rs4444903	Carriage of the EGF rs4444903 A>G functional polymorphism associates with disease progression in chronic HBV infection.
EGF	Rs6847149	Exercise heart rate, rs6847149 (NOLA1, p = 2.74 10 (-6) ). A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
EGF	Rs718768	Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project.
EGFR	Rs121434568	Aka c.2573T>A, p.Leu858Gln or L858Q, and also c.2573T>G, p.Leu858Arg or L858RThe L858Q variant (in the EGFR gene) is reported in ClinVar as a germline variant considered likely pathogenic in association with non-small cell lung cancer.The L858R variant is reported in ClinVar primarily as a somatic (not germline) variant, observed in tumors and reported to be predictive of response to various chemotherapeutics used to treat non-small cell lung cancer.
EGLN1	Rs12097901	The EGLN1 gene encodes prolyl hydroxylase 2 (PHD2) protein.Along with another SNP seen frequently primarily in Tibetans, rs186996510, this SNP is reported to have arisen ~8,000 years ago as an adaptation protecting Tibetans from hypoxia at the high altitudes they inhabit.
EGLN1	Rs186996510	The EGLN1 gene encodes prolyl hydroxylase 2 (PHD2) protein.Along with another SNP seen frequently primarily in Tibetans, rs12097901, this SNP is reported to have arisen ~8,000 years ago as an adaptation protecting Tibetans from hypoxia at the high altitudes they inhabit.
EIF2AK4	Rs587777105	Also known as c.3406C>T (p.Arg1136Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777208	Also known as c.3448C>T (p.Arg1150Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777107	Also known as c.1387C>T (p.Arg463Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777106	Also known as c.1754G>A (p.Arg585Gln), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777104	Also known as c.567dupG (p.Lys190Glufs), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777103	Also known as c.3802C>T (p.Gln1268Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2AK4	Rs587777102	Also known as c.1392delT (p.Arg465Valfs), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF4G1	Rs111290936	Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.
EIF4G1	Rs112019125	Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.
EIF4G1	Rs112176450	Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.
EIF4G1	Rs113169049	A study of several cases of familial Parkinsons disease concluded that rs113169049 (C), a very rare allele, may be a dominant mutation leading to late-onset disease.
EIF4G1	Rs113388242	Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.
ELAC2	Rs4792311	Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.
ELAC2	Rs4792311	Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
ELP4	Rs964112	Associated with rolandic epilepsy, as part of a relatively tightly linked cluster of 3 SNPs ( rs964112, rs11031434, and rs986527.
ENG	Rs1800956	Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
ENPP1	Rs121908248	Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
ENPP1	Rs997509	rs997509 we found a new SNP, rs997509, in intron 1 that is strongly associated with risk of type 2 diabetes in obese individuals.
EPAS1	Rs17039192	A large-scale (3,000+ cases) replication study attempting to replicate a reported association between rs17039192 in the HIF-2a gene with knee osteoarthritis was unable to find any association whatsoever.
EPCAM	Rs1126497	rs1126497, also known as Thr115Met, is a SNP in the epithelial cell adhesion molecule EPCAM gene.In a study of case control study of 1643 individuals with breast cancer and 1818 control subjects in Eastern and Southern Chinese populations, the rs1126497 (T) allele was associated with a 1.4x increased risk (CI: 1.16-1.57), and it was also associated with early breast cancer onset (p=0.0023).
EPHA2	Rs11260867	rs11260867 is a SNP located 3 of the EPHA2 gene, which has at least one putative causative mutation leading to age-related cataracts.
EPHA2	Rs11260867	A study involving a case-control cohort from Northern Italy, comprising 126 unrelated individuals with nuclear cataracts, 119 with cortical cataracts, and 104 unrelated controls with clear lenses, found increased risk associated two SNPs near the EPHA2 gene ( rs7543472 and rs11260867 ).
EPHA2	Rs11260867	For rs11260867, the (G;G) genotype was as 1.5 - 2.3x increased risk for cataracts (p < 0.007).
EPOR	Rs121918116	rs121918116, also known as c.1317G>A, p.Trp439Ter or W439X, is a rare mutation in the EPOR erythropoietin receptor gene on chromosome 19.In a large Finnish family with autosomal dominant erythrocytosis (an increased number of circulating red blood cells), researchers found the rs121918116 (G) mutation; the phenotype was mild in all individuals, and one individual (Eero Mantyranta) won 3 Olympic gold medals in cross-country skiing, presumably due in part to his bodys ability to carry ~50% more oxygen than average.
ERBB4	Rs707284	The effects of psychosis risk variants on brain connectivity: a review.
ERBB4	Rs7598440	Linked to schizophrenia with rs7598440, rs839523, and rs707284.
ERBB4	Rs839523	Linked to schizophrenia with rs7598440, rs839523, and rs707284.
ERCC2	Rs13181	Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
ERCC2	Rs13181	Lung cancer susceptibility model based on age, family history and genetic variants.
ERCC2	Rs13181	Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
ERCC2	Rs13181	Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.
ERCC2	Rs13181	Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
ERCC2	Rs13181	Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India.
ERCC2	Rs13181	Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.
ERCC2	Rs13181	ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis.
ERCC2	Rs13181	Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
ERCC2	Rs13181	Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
ERCC2	Rs13181	Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.
ERCC2	Rs13181	Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
ERCC2	Rs13181	Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
ERCC2	Rs13181	Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
ERCC2	Rs13181	Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.
ERCC2	Rs13181	Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
ERCC2	Rs13181	rs13181, also known as c.2251A>C, p.Lys751Gln and K751Q, is a variant in the ERCC2 gene on chromosome 19.A meta-analysis of 20 studies, comprising 2,308 cases, ultimately concluded that the rs13181 (G) allele is associated with increased cutaneous melanoma risk (odds ratio 1.12, CI: 1.03-1.21, p = 0.01; population attributable risk = 9.6%).A preliminary (as yet unreplicated) study of 430 patients with ovarian cancer concluded that rs13181 (C;C) is associated with an increased risk of ovarian cancer (OR 5.01 relative to rs13181 (A;A), CI: 3.37-7.43; p < 0.0001).
ERCC2	Rs13181	Interestingly, heterozygotes were reported to have a lower odds ratio for developing ovarian cancer (of 0.43; CI: 0.27–0.62, p < 0.0001) compared to rs13181 (A;A) individuals.
ERCC2	Rs13181	Polymorphisms in XPD and TP53 and mutation in human lung cancer.
ERCC2	Rs13181	Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
ERCC2	Rs13181	Correlation of genetic polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer patients to platinum-based chemotherapy.
ERCC2	Rs13181	Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
ERCC2	Rs13181	Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
ERCC2	Rs13181	Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
ERCC2	Rs13181	Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
ERCC2	Rs13181	Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.
ERCC2	Rs13181	Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
ERCC2	Rs13181	Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
ERCC2	Rs13181	Genotyping panel for assessing response to cancer chemotherapy.
ERCC2	Rs13181	Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
ERCC6	Rs3793784	ERCC6/CSB gene polymorphisms and lung cancer risk.
ESCO2	Rs80359869	Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
ESCO2	Rs80359868	Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
ESCO2	Rs80359866	Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
ESCO2	Rs80359851	A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
ESCO2	Rs80359861	Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
ESCO2	Rs80359849	Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
ESCO2	Rs80359862	Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
ESR1	Rs2234693	Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
ESR1	Rs3020314	Estrogen receptor-positive breast cancer risk (C) have an Odds Ratio (OR) = 1.05 95% Confidence Intervals (CI) 1.02-1.09 relative to t-allele homozygotes, P= 0.004.
ESR1	Rs2295190	rs2295190 is a SNP in the spectrin repeat containing, nuclear envelope 1 SYNE1 gene, located 19kb downstream of the estrogen receptor alpha ESR1 gene.A large study (over 5,000 cases) of ovarian cancer samples from the Ovarian Cancer Association Consortium concluded that carriers of a rs2295190 (T) allele are at slightly increased risk for ovarian cancer (odds ratio 1.09, CI: 1.02-1.17, p=0.017).
ESR1	Rs2234693	Interaction between ESRalpha polymorphisms and environmental factors in osteoporosis.
ESR1	Rs2234693	Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes.
ESR1	Rs2881766	rs2881766 is a SNP in the promoter region of the estrogen receptor alpha ESR1 gene.Carriers of rs2881766 (T) alleles are at somewhat (slightly) higher risk for pregnancy-induced hypertension.
ESR1	Rs2152750	rs2152750 is in linkage disequilibrium with a polymorphism that increases susceptibility to Bone mineral density variations, lower for carriers of the A allele.
ESR1	Rs2144025	Study of genetic variants of ESR1 finds a significant relationship between the minor T allele on rs2144025 and Bipolar disorder and other psychiatric symptoms.
ESR1	Rs1999805	rs1999805 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele.
ESR1	Rs1569788	577 African American individuals with T2DM-ESRD and 596 AA controls.
ESR1	Rs2179922	A study of 1153 elderly Swedish men (age 70) concluded that rs2179922 (G;G) homozygotes were between 0.90 - 2.3cm taller on average than either (A;G) or (A;A) genotypes.
ESR1	Rs11964281	577 African American individuals with type-2 diabetes T2DM-ESRD and 596 AA controls.
ESRRB	Rs2360997	Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder.
EYA1	Rs3779748	rs3779748 in EYA1, was significantly associated with kidney disease (odds ratio per each T allele 1.22, p=0.01).
F11	I4000399	Factor XI Deficiency rs121965064.
F11	Rs121965063	rs121965063, also known as E117X or Glu117Ter, is a SNP in the coagulation factor XI F11 gene.This SNP is reported by 23andMe as one of the three most common factor XI deficiency-causing mutations in Ashkenazi Jews; it is reported as i4000398 by 23andMe.
F11	Rs281875251	Aka c.1789G>T (p.Glu597Ter) and also c.1789G>A (p.Glu597Lys). the former is pathogenic in ClinVar for Factor XI deficiency, but the latter is of uncertain significancenote that 23andMe tests the c.1789G>A VUS under the name i6009888.
F11	Rs373297713	rs373297713, better known as c.1716+1G>A or IVS14DS, G-A, +1, is a SNP in the coagulation factor XI F11 gene.This SNP is reported by 23andMe as one of the three most common factor XI deficiency-causing mutations found in Ashkenazi Jews; it is termed i4000397 by 23andMe.See OMIM 264900.0001.
F12	Rs1801020	Affects heart disease risk for both men and women, based on a study of two Finnish population cohorts (HR = 1.31 (1.08-1.60) for CVD, uncorrected p = 0.006 multiplicative model).
F2	Rs1799963	JAMA discusses the value of testing this snp for venous thromboembolism.
F5	Rs7542281	As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events.
F5	Rs6025	Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women.Placental AbruptionOral Contraceptives, HRT and Risk of VTE.
F5	Rs6019	Compared with non-smoking mothers carrying rs6019 (C) associated with significantly increased risk of PTD (OR (95% CI) : 2.1 (1.2-3.6) for GC; 5.7 (2.1-15.0) for CC; p-interaction = 0.02 Polymorphism in maternal LRP8 gene is associated with fetal growth.
F5	Rs4524	Gene variants associated with deep vein thrombosis.Updated analysis of gene variants associated with deep vein thrombosis.
F5	Rs2269648	As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events.
F5	Rs1800595	Coinheritance of Factor V Mutation (Leiden) is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of Factor V Mutation (Leiden) alone..
F5	Rs1800595	Coexistence of the R2 polymorphism rs1800595 with factor V Leiden rs6025 increases the risk for venous thrombosis approximately to a 16-fold increased risk.
F5	Rs1800595	The factor V R2 polymorphism is associated with decreased levels of factor V and it significantly increases risk of venous thrombosis in individuals who are heterozygous for the factor V Leiden mutation.
F5	Rs1800595	Factor V Leiden is present in 5% to 7% of the general population and 20% to 40% of individuals with venous thrombosis.
F5	Rs1800595	Among patients with venous thrombosis, approximately 12% are heterozygous for the R2 polymorphism..
F9	I5007022	rs398122990 The (G) allele represents a very rare - possibly extinct - form of Hemophilia B.
FAAH	Rs324420	In a 2016 study, ~1000 women undergoing surgery for breast cancer were tested for cold and heat pain sensitivity; rs324420 (A;A) individuals reported significantly lower cold pain sensitivity and less need for postoperative analgesia.
FAH	I5012861	Tyrosinemia Type I rs80338898.
FAH	I5012864	Tyrosinemia Type I rs121965075.
FAH	I5012867	Tyrosinemia Type I rs80338895.
FAH	Rs11555096	Association with Tyrosinemia Type I.
FAH	Rs80338899	Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
FAH	Rs80338901	A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
FANCC	Rs104886459	rs104886459, also known as 322delG, is a SNP in the Fanconi anemia, complementation group C FANCC gene.23andMe reports that this causative mutation for Fanconi anemia is found mainly in non-Jewish people with European ancestry.
FANCC	Rs104886457	rs104886457, also known as R548 or R548X, is a SNP in the Fanconi anemia, complementation group C FANCC gene.23andMe reports that this causative mutation for Fanconi anemia is found mainly in non-Jewish people with European ancestry.
FANCC	Rs104886456	This same mutation is the most common cause of FANCC-related Fanconi anemia in Japan.
FANCC	I4000336	Fanconi Anemia rs104886456.
FANCC	Rs104886456	rs104886456, also known as IVS4+4A>T, is a SNP in the Fanconi anemia, complementation group C FANCC gene.23andMe reports that this mutation is carried by approximately 1% of Ashkenazi Jews and is responsible for more than 99% of FANCC-related Fanconi anemia in this population.
FANCM	Rs144567652	rs144567652, also known as c.5791C>T, p.Arg1931Ter and R1931X, is a SNP in the FANCM gene.Genotyping 8,635 familial breast cancer cases led to an association with rs144567652, (odds ratio 3.93, CI:1.28-12.11, p=0.017), and two subsequent meta-analyses showed similar breast cancer associations (odds ratio 3.67, CI:1.04-12.87, p=0.043, and, OR of 3.33, CI:1.09-13.62, p=0.032), respectively.Note: a name used by 23andMe for this SNP is i6050899.
FBN1	I5043856	Marfan syndrome rs113812345.
FCGR2B	Rs1050501	Association of Fcgamma receptor IIB gene polymorphism with genetic susceptibility to systemic lupus erythematosus in Chinese populations--a family-based association study.
FCGR2B	Rs1050501	Genetic susceptibility and haplotype analysis between Fcgamma receptor IIB and IIIA gene with systemic lupus erythematosus in Chinese population.
FCGR2B	Rs1050501	Fcgamma receptors: structure, function and role as genetic risk factors in SLE.
FCGR3A	Rs396991	Studies involving trastuzumab: A retrospective analysis of 1,251 patients included in a phase III trial of women with ERBB2/HER2-positive breast cancer concluded that rs396991 (G) carriers (i.e.
FCGR3A	Rs403016	SNP rs403016 has been reported from a study of 119 Chinese lupus patients to be associated with an increased risk for developing the disease.
FECH	Rs2269219	Aka c.68-23C>T and also c.68-23C>AOriginally considered pathogenic for erythropoietic protoporphyria; now considered likely to be benign.
FECH	Rs2272783	rs2272783, also known as IVS3-48T-C, is a mutation in the ferrochelatase FECH gene leading to lowered expression of that enzyme.When coupled in trans with a nonfunctional FECH allele, this is likely to lead to erythropoietic protoporphyria.See also: OMIM 612386.0015.
FECH	Rs3848519	Aka c.163G>T (p.Gly55Cys) Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because its seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).
FGF23	Rs28937882	Aka c.535C>T (p.Arg179Trp or R179W).
FGFR2	Rs7895676	Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.
FGFR2	Rs7895676	Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.
FGFR2	Rs7895676	FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.
FGFR2	Rs7895676	rs7895676 is a SNP within intron 2 of the FGFR2 gene, as part of a haplotype associated with increased risk for sporadic postmenopausal ER+ breast cancer in Caucasian patients.
FGFR2	Rs7895676	The minor alleles of both SNPs, rs7895676 and rs2981578, lead to increased transcription and increased breast cancer risk.
FGFR2	Rs11200014	This SNP is basically a proxy for SNP rs1219648, which represents the SNP in the FGFR2 gene with the strongest association with breast cancer.
FGFR3	Rs121913114	rs121913114, also known as Ser279Cys or S279C, is a mutation in the FGFR3 gene on chromosome 4.Acting in an autosomal dominant manner, the rs121913114 (T) allele is considered to cause achondroplasia; see also OMIM 134934.0030Note that 23andMe refers to this SNP as i5001264.
FGFR3	Rs28931614	A more rare change at this SNP, c.1138G>C (rather than G>A), also leads to achondroplasia; it is referred to as i6010295 by 23andMe.
FGFR3	Rs28931614	rs28931614, also known as G380R, Gly380Arg, and c.1138G>A, is a SNP in the fibroblast growth factor receptor 3 FGFR3 gene on chromosome 4.
FGFR3	I6010295	Achondroplasia rs28931614.
FGFR3	Rs121913105	Acting in an autosomal dominant manner, the rs121913105 (T) allele is considered to cause achondroplasia, or at least a term called SADDAN dysplasia; see also OMIM 134934.0015.Note that 23andMe refers to this SNP as i5001274 and i6010277.
FGFR3	I5053815	Achondroplasia rs75790268.
FGFR3	I5001280	Achondroplasia rs75790268.
FGFR3	I5001267	Achondroplasia? rs267606809.
FGFR3	I5001264	Achondroplasia rs121913114.
FGFR3	I6010281	Achondroplasia rs75790268.
FKBP5	Rs9470080	Interaction between FKBP5 and childhood trauma and risk of aggressive behavior.
FKBP5	Rs3800373	rs9296158 rs3800373 rs1360780 rs9470080 linked with the severity of child abuse to predict level of adult PTSD symptoms after correcting for multiple testing.
FKBP5	Rs9296158	rs9296158 rs3800373 rs1360780 rs9470080 linked with the severity of child abuse to predict level of adult PTSD symptoms after correcting for multiple testing.
FKRP	Rs28937900	rs28937900, also known as c.826C>A, p.Leu276Ile and L276I, represents a rare variant in the FKRP gene.Inherited recessively, it is considered pathogenic by multiple submitters to ClinVar for a type of Limb-girdle muscular dystrophy-dystroglycanopathy.
FLCN	Rs41419545	Folliculin mutations are not associated with severe COPD.
FLG	Rs150597413	Aka c.9740C>A (p.Ser3247Ter or S3247X) Dominantly inherited variant pathogenic for ichthyosis vulgaris in ClinVar, and also associated with higher odds of eczema (OR 1.66, CI:1.4-1.98).
FLG	Rs114733570	This variant is predicted to cause loss of normal protein function through protein truncation.
FLG	Rs121909626	The mutation was not found in 156 unrelated nonatopic and nonichthyotic Japanese controls.
FLG	Rs138726443	Aka c.7339C>T (p.Arg2447Ter or R2447X) Dominantly inherited variant pathogenic for ichthyosis vulgaris in ClinVar, and also associated with higher odds of eczema (OR 1.96, CI:1.69-2.27).
FLG	Rs140980397	This variant is predicted to cause loss of normal proteinfunction through protein truncation.
FLG	Rs142991475	This variant is predicted to cause loss of normal protein function through protein truncation.
FLG	Rs41370446	This variant is predicted to cause loss of normal protein function through protein truncation.
FLG	Rs558269137	This mutation is perhaps the best known of a relatively large number of loss-of-function (LoF) mutations in the FLG gene that lead to increased risk for ichthyosis vulgaris, atopic dermatitis and eczema.
FLG	Rs61816761	In this study of 7688 type 1 diabetes patients and 9354 controls, the association between rs61816761 and type 1 diabetes was examined.
FLG	Rs61816761	In other words, there is no association between rs61816761 and type 1 diabetes.
FLG	Rs754812742	Aka c.3905C>A (p.Ser1302Ter). also c.3905C>T; the former is pathogenic for ichythosis vulgaris.
FLNB	Rs939882	/ 23andMe blog rs1867138 (T;T) or rs1867137 (G;G) were approximately one inch taller than rs1867138 (C;C) rs9834312 (G;G) or rs939882 (G;G) increased height.
FLNB	Rs80356520	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
FMO3	Rs72549331	The homozygous minor genotype has been reported in a patient with trimethylaminuria.
FMO3	Rs72549326	Homozygous minor genotypes for this SNP have been reported to have trimethylaminuria.
FMO3	Rs72549334	In the homozygous minor genotype, it has been reported to lead to trimethylaminuria.
FMO3	Rs72549323	It has been linked in (only) one report to trimethylaminuria.
FMO3	Rs72549322	In homozygous minor genotypes, it is likely to be lead to trimethylaminuria.
FMO3	Rs72549321	The homozygous minor genotype for this SNP has been reported in a single patient with trimethylaminuria.
FMO3	Rs72549320	In a heterozygous genotype, it was observed in an individual with trimethylaminuria.
FMO3	Rs61753344	It has been reported in both homozygous and heterozygous forms to potentially be linked to trimethylaminuria; in the homozygous form, it has also been linked to tachycardia and severe hypertension after eating cheese (which contains tyramine) and after using nasal epinephrine.
FMO3	Rs1736557	It has been linked to trimethylaminuria; see variant.0002, OMIM 136132.
FN1	Rs137854488	Aka c.2918A>G, p.Tyr973Cys and Y973C; autosomal dominant mutation associated with a form of glomerulopathy with fibronectin deposits (type 2). see also OMIM.
FN1	Rs6707530	The product of the FN1 gene (located at 2q34) is involved in cell adhesion, migration and metastasis in mesenchymal tumors.
FOXE1	Rs1867277	This allele is thought to be a causal variant.
FOXO1	Rs2721068	rs2721068 was significantly associated with type-2 diabetes.
FOXP2	Rs17137124	Variations in rs17137124 and rs10227893 may impair speech.
FOXP2	Rs2396753	rs2396753 (C>A) gene variant of the FOXP2 gene has significant effects on grey matter concentration in patients with schizophrenia.
FOXP2	Rs10227893	Variations in rs17137124 and rs10227893 may impair speech.
FOXP2	Rs117717824	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
FOXP3	Rs3761547	SNPs in the FOXP3 gene region show no association with Juvenile Idiopathic Arthritis in a UK Caucasian population.
FOXP3	Rs3761548	The rs3761548 polymorphism of FOXP3 is a protective genetic factor against allergic rhinitis in the Hungarian female population.
FSHR	Rs1394205	Aka c.-29G>A.
FSHR	Rs386833512	Aka NM_000145.3 (FSHR) :c.1760C>A or (p.Pro587His) OMIM pathogenic variant.
FSHR	Rs6166	rs6166 (G) is the risk allele encoding the Ser amino acid, at least based on one study in which less fecund women were found to be disproportionately Ser/Ser homozygotes (i.e.
FTL	Rs1114167274	OMIM pathogenic.
FTO	Rs3751812	/ 23andMe considers rs3751812 (T) equivalent to the rs9939609 (A) implicated for african americans.
FTO	Rs7193144	The risk allele is C.
FTO	Rs7204609	A latent variable partial least squares path modeling approach to regional association and polygenic effect with applications to a human obesity study.
FTO	Rs9937053	The SNP showing the strongest association with body weight (i.e.
FTO	Rs9930506	Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.
FTO	Rs9932754	Variations in the FTO gene are associated with severe obesity in the Japanese.
FTO	Rs1861868	Association of FTO gene polymorphisms and morbid obesity in the population of Extremadura (Spain).
FTO	Rs9922619	The SNP showing the strongest association with body weight (i.e.
FTO	Rs1861868	Source rs1477196 and rs1861868 associated with obesity in subjects with low physical activity scores and no effect on those with above-average physical activity scores.
FTO	Rs1421085	Our results suggest that FTO may be one of the worldwide obesity-risk genes.
FTO	Rs17817449	Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study.
FTO	Rs17818902	Lack of an association between three tagging SNPs within the FTO gene and smoking behavior.
FTO	Rs121918214	Aka c.947G>A (p.Arg316Gln or R316Q) GDFD is an acronym for growth retardation, developmental delay, coarse facies, and early death.
FTO	Rs1421085	rs1421085 is a SNP located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16.
FTO	Rs1421085	This SNP showed the most association with obesity in the original work by Dina et al.
FTO	Rs1121980	Obesity and type-2 diabetes rs1121980 rs7498665 rs4752856 rs17782313 rs2815752 rs10938397.
FTO	Rs1421085	This SNP is also associated with adult obesity in Mexicans.
FTO	Rs1477196	Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
FTO	Rs1421085	The rs1421085 T-to- C single-nucleotide alteration underlies the association between FTO and obesity by disrupting ARID5B-mediated repression of IRX3 and IRX5.
FUS	Rs929867	Although based on a relatively small study, theres a strong association (odds ratios above 30) between the very rare (and neighboring) minor alleles of rs8056264 and rs929867 with common variable immunodeficiency (CVID) reported in.
FUT2	Rs1047781	The wild-type rs1047781 (A) encodes the Secretor allele, while rs1047781 (T) encodes the nonsecretor (se2 or sej) allele.This basis for FUT2 nonsecretor status is found primarily in Japanese.
FUT2	Rs1047781	In Japanese, the se1 allele is absent, but 15% of individuals are non-secretors based on being homozygous for rs1047781 (T;T).
FXN	Rs143396368	2), is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs145854903	rs145854903, also known as c.118 C>T or p.R40C, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs144104124	rs144104124, also known as c.593 T>G or p.L198R, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs144610605	2), is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs146818694	rs146818694, also known as c.438 C>G or p.N146K, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs56214919	rs56214919, also known as c.517 T>G or p.W173G, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs148698100	rs148698100, also known as c.354 C>G or p.Y118X, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs149284013	rs149284013, also known as c.296_297 insT or p.E100RfsX12, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs150676454	rs150676454, also known as c.165_+_5 G>C or, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs151206121	rs151206121, also known as c.381_384 delTGGG_+_c.384_+_1__+_9 delGTACCTCTT or, is a mutation in the FXN gene on chromosome 9.The deletion is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs143340609	rs143340609, also known as c.467 T>C or p.L156P, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs148443992	2), is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs143232208	rs143232208, also known as c.11-12 delTC or p.L4RfsX88, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs147211454	rs147211454, also known as c.340_352 del13 or p.A114TfsX15, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs142133355	rs142133355, also known as c.2 T>C or p.M1T, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs104894106	rs104894106, also known as c.460_A>T or p.I154F, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.This SNP is referred to as i5003932 by 23andMe.
FXN	Rs104894107	rs104894107, also known as c.389G>T, p.Gly130Val or G130V, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.This SNP is referred to as i5003931 by 23andMe.
FXN	Rs104894108	C.3 G>T or p.M1IThe minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies.
FXN	Rs138034837	rs138034837, also known as c.493 C>T or p.R165C, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs138446138	rs138446138, also known as c.202_205 delGTCAinsTTG or p.V68LfsX8, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs138491271	rs138491271, also known as c.118 delC or p.R40VfsX36, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs140472905	rs140472905, also known as c.443_A>G or p.Q148R, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs140510894	rs140510894, also known as c.104 delC or p.P35HfsX41, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs140987490	rs140987490, also known as c.384-2_A>G or, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs141526971	rs141526971, also known as c.482_+_2 T>G or, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs141935559	rs141935559, also known as c.157 insC or p.R53PfsX40, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs138837292	rs138837292, also known as c.100 delG or p.A34PfsX42, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs142157346	rs142157346, also known as c.364 G>T or p.D122Y, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FYCO1	Rs7652331	rs7652331 is one of seven SNPs found in a combined study of over 1,000 patients to be associated with increased risk for prostate cancer.
FYCO1	Rs1545985	rs1545985 is one of seven SNPs found in a combined study of over 1,000 patients to be associated with increased risk for prostate cancer.
G6PC	Rs80356487	Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
G6PC	Rs80356487	Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
G6PC	I3002486	Glycogen Storage Disease Type 1asee rs1801175.
G6PC	Rs1801175	However, the mutation alone does not predict the severity of the disease.Note that 23andMe tests for this SNP using their own terminology (i3002486).See also: OMIM 232200.0002.
G6PD	Rs76723693	The authors suggest that when using Hb1Ac values to diagnose type-2 diabetes, those units should be added to the measured Hb1Ac level, and a diagnosis should then be made if the sum is >6.5% (the standard diagnostic threshold).
G6PD	Rs72554665	23andMe name (for the G>T variant) : i5012739.
G6PD	Rs267606835	rs267606835, also known as c.407C>G, p.Ser136Cys, S136C and also Ser106Cys, is a variant in the G6PD gene, located on the X chromosome.This variant has been described as one of three variants defining a unique null G6PD allele in a patient with chronic granuloma and hemolytic anemia.
G6PD	Rs1557229572	Aka c.1347G>C, c.1437G>C, (p.Gln449His or Q449H).
G6PD	Rs138687036	Aka c.241C>T (p.Arg81Cys).
G6PD	Rs137852334	23andMe name: i5008446.
G6PD	Rs137852331	23andMe name: i5008443.
G6PD	Rs137852318	Overall, while the minor allele is reported to lead to a mild phenotype, for the moment it continues to be reported in ClinVar, OMIM and here as a pathogenic variant.Additional terms for this variant include c.934G>C, p.Asp312His, Asp282His, D312H, and D282H.
G6PD	Rs137852315	23andMe name: i6010627.
G6PD	Rs1163458456	Aka c.99A>G (p.lle33Met).
G6PD	Rs1050829	The study found that in comparison to controls (n=69), Massalit individuals (n=60) who possess the rs105829 G allele were less susceptible to malarial infection (p=0.02).
G6PD	Rs1050829	G6PD deficiency frequency is highest in malarial regions where G6PD deficient individuals are typically less affected by malarial infection ().The minor allele of this SNP should be reclassified as benign according to Study of malaria in Gambian children uses the rs1050829 allele to help detect G6PD deficient individuals.
G6PD	Rs1050828	Genome wide association results include that rs1050828 A allele found in African American individuals is strongly associated with certain erythrocyte phenotypes including; lower red blood cell, hemoglobin and hematocrit counts (all p values <2.0 x 10 <sup>-13</sup>).
G6PD	Rs137852330	Hemolytic anemia after a specific trigger, such as aspirin or eating fava beans), according to citations in OMIM.This variant has also been described as one of three variants defining a unique null G6PD allele in a patient with chronic granuloma and hemolytic anemia.
GABRA1	Rs2279020	Gender-specific contribution of the GABA (A) subunit genes on 5q33 in methamphetamine use disorder.
GABRA2	Rs497068	The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample.
GABRA2	Rs279858	This SNP in the GABRA2 gene has been linked to Alcoholism.
GABRA2	Rs279845	Cocaine effects on mouse incentive-learning and human addiction are linked to alpha2 subunit-containing GABAA receptors.
GABRA2	Rs279871	This SNP in the GABRA2 gene has been linked to Alcoholism.The strongest association for this SNP is seen when it is a member of a haplotype consisting of the rs279871 (A) + rs279845 (T) + rs279836 (A) alleles.
GABRA2	Rs279844	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
GABRA2	Rs279836	This SNP in the GABRA2 gene has been linked to Alcoholism.The strongest association for this SNP is seen when it is a member of a haplotype consisting of the rs279871 (A) + rs279845 (T) + rs279836 (A) alleles.
GABRA2	Rs279845	Uncovering genes for cognitive (dys) function and predisposition for alcoholism spectrum disorders: a review of human brain oscillations as effective endophenotypes.
GABRB1	Rs2351299	Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
GABRB1	Rs728293	An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
GABRD	Rs142619552	Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
GAD1	Rs3791851	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism.
GAD1	Rs769407	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism.
GAD1	Rs3791878	Implicated in schizophrenia.
GAD1	Rs3791850	Heroin addiction in African Americans: a hypothesis-driven association study.
GAD1	Rs11542313	Polymorphisms in the glutamate decarboxylase 1 gene associated with heroin dependence.
GAD1	Rs2058725	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism.
GAD1	Rs1978340	Polymorphisms in the glutamate decarboxylase 1 gene associated with heroin dependence.
GAD1	Rs12185692	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism.
GAD1	Rs2241165	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism.
GALC	Rs398123175	Aka c.1161+2T>GIdentified in ClinVar as pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote).
GALC	Rs752537626	Aka c.1700A>C, p.Tyr567SerIdentified in ClinVar as likely pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs750524447	Aka c.908+1G>AIdentified in ClinVar as likely pathogenic/pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs749893889	Aka c.1591C>T, p.Arg531CysIdentified in ClinVar as likely pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs748573754	Aka c.1657G>A, p.Gly553ArgIdentified in ClinVar as likely pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs398123177	Aka c.862T>C, p.Trp288ArgIdentified in ClinVar as likely pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote).
GALC	Rs387906955	Aka c.121G>A, p.Gly41SerIdentified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs374635469	Aka c.388G>A, p.Glu130LysClinVar indicates as probably pathogenic for Krabbe disease.
GALC	Rs387906952	Aka c.1630G>A, p.Asp544Asn or D544NIdentified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs121908010	Aka c.1153G>T, p.Glu385TerIdentified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs147313927	C.334A>G, p.Thr112AlaIdentified in ClinVar as pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote).
GALC	Rs387906954	Aka c.953C>G, p.Pro318ArgIdentified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALC	Rs200378205	Aka c.1592G>A, p.Arg531HisIdentified in ClinVar as pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote).
GALC	Rs199847983	Aka c.857G>A, p.Gly286AspIdentified in ClinVar as likely pathogenic/pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALNT3	Rs16851009	A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan.
GALT	Rs111033640	Heterozygotes) who are fed galactose-containing milk dont show any differences at ages 6-12 compared with those fed normal milk.
GALT	Rs111033647	C.130G>T (p.Val44Leu) and c.130G>A (p.Val44Met). both are considered pathogenic in ClinVar23andMe name for c.130G>A: i5002980.
GALT	Rs2070074	Galactosemia.
GALT	Rs75391579	rs75391579, also known as c.563A>G, p.Gln188Arg and Q188R, represents a variant in the GALT gene on chromosome 9.The rs75391579 (G) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns.
GAMT	Rs80338736	Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
GAMT	Rs55776826	rs55776826, also known as c.459+71G>A, is a SNP in the fourth intron of the guanidinoacetate N-methyltransferase GAMT gene on chromosome 19. rs55776826 been reported as most likely to be a clinically benign polymorphism.
GATA3	Rs570613	A study of 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) concluded that there is no evidence that rs570613 is associated with breast cancer risk in women.
GATA4	Rs104894073	rs104894073, also known as c.886G>A, p.Gly296Ser and G296S, represents a rare variant in the GATA4 gene.Inherited in an autosomal dominant manner, the rs104894073 (A) allele is considered a causative mutation for atrial septal defect, type 2.
GBA	Rs387906315	rs387906315, also known as c.84dupG, p.Leu29Alafs 18 or 84GG, is a causal mutation for Gauchers disease.23andMe chooses to use their own name, i4000417, for this SNP.
GBA	Rs80356769	Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
GBA	Rs76763715	There are no neurological symptoms.
GBA	Rs76763715	rs76763715, also known as N370S or Asn370Ser, is a SNP in the GBA gene associated with Gaucher disease.As reported by 23andMe, who use the term i4000415 for this SNP, the N370S mutation is associated only with type 1 Gaucher disease, which usually lacks neurological symptoms.
GBA	Rs421016	A mutation in the human glucocerebrosidase gene in neuronopathic Gauchers disease.
GBA	Rs364897	rs364897, also known as c.680A>G, Asn188Ser or N188S, is a variant in the GBA gene which has been associated with Gauchers Disease. rs364897 (G;G) has been observed in Korean and Taiwanese subjects with type I Gaucher disease.It may be a relatively mild defect in the gene, since the encoded enzyme appears to retain most of its function.
GBA	I4000386	I4000386, also known as R496H (risk genotype AA) Possibly associated with Gauchers disease.Gaucher Disease rs80356773.
GBA	Rs104886460	It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the other GBA mutation found in an individual (since its a recessive condition requiring both alleles to be affected).See also: OMIM 606463.0015.
GBA	I4000419	I4000419, also known as V394L (risk genotype AA) Possibly associated with Gauchers disease.Gaucher Disease rs80356769.
GBA	I4000417	Outside of 23andMe, the rest of the world calls this SNP rs387906315.Gaucher Disease rs387906315.
GBA	I4000415	I400415, also known as N370S (risk genotype CC) Possibly associated with Gauchers disease.
GBA	Rs2230288	rs2230288, also known as E326K or E365K, is a variation in the GBA gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease.However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a modifier variant.A / news item from 2016 links rs2230288 to increased risk for rapid eye movement sleep behavior disorder (RBD), which often precedes synucleinopathies such as Parkinsons disease.
GCDH	Rs11085825	Aka c.852+223C>TClinVar indicates likely pathogenic (for glutaric aciduria, type 1) according to a single submitter, but with a population frequency as high as 10% for the minor allele homozygote, this seems very unlikely to be correct and instead this variant is most likely not pathogenic.
GCDH	Rs121434367	Aka c.1262C>T (p.Ala421Val or A421V). may be referred to as the Amish GA1 mutation.
GCDH	Rs121434369	Since glutaric acidemia I disease is caused by homozygous or compound heterozygous mutation in the GCDH gene, this SNP is predicted to be the most common mutation associated with glutaric acidemia I.
GCH1	Rs998259	Polymorphic Variation of the Guanosine Triphosphate Cyclohydrolase 1 Gene Predicts Outcome in Patients Undergoing Surgical Treatment for Lumbar Degenerative Disc Disease.
GCH1	Rs752688	T allele associated with higher tolerance to pain.Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain.
GCH1	Rs7142517	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
GCH1	Rs4411417	C allele associated with higher tolerance to pain.
GCH1	Rs4411417	C allele associated with higher tolerance to pain.Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain.
GCH1	Rs886039379	Aka c.631_632delAT (p.Met211Valfs) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dopa-responsive dystonia.
GCH1	Rs17738966	A GCH1 Haplotype Associated with Susceptibility to Vasoocclusive Pain and Impaired Vascular Function in Sickle Cell Anemia.
GCH1	Rs2878172	A GCH1 Haplotype Associated with Susceptibility to Vasoocclusive Pain and Impaired Vascular Function in Sickle Cell Anemia.
GCH1	Rs10483639	C allele associated with higher pain tolerance.GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function.
GCH1	Rs8007201	G allele associated with higher tolerance to pain.
GCH1	Rs104894444	However, note that OMIM indicates some individuals carrying this mutation are reported to be asymptomatic.See also OMIM 600225.0018.
GCH1	Rs11158026	rs11158026 (T) allele carriers show a slight increase in risk for Parkinsons disease, based on a study of ~200 patients; odds ratio 1.23, p = 0.048 (i.e.
GDF2	Rs35129734	C.997C>T (p.Arg333Trp).
GDF5	Rs143383	This SNP is associated with osteoarthritis (OA).
GDF5	Rs143383	rs143383 showed significant association with hip osteoarthritis in two independent Japanese populations.
GDF5	Rs143383	It also showed association with knee osteoarthritis in Japanese and Chinese populations.
GDF5	Rs143383	Is not a risk factor for osteoarthritis in Greek CaucasiansA subsequent study showed that the same risk allele, rs143383 (T), was (somewhat) associated with osteoarthritis in European populations.
GDF5	Rs143383	The (T) allele appears to make less GDF5 protein, which eventually renders an individual somewhat more susceptible to osteoarthritis.A meta-analysis combining data from 11,000+ individuals as well as both European and Asian populations found strong evidence (p < 0.0004) confirming increased risk for osteoarthritis from the rs143383 (T) allele.
GDF5	Rs143383	The best model is a dominant one, and the odds ratio reported is 1.21 in general and 1.48 for the dominant model.Another meta-analysis of 14 studies concluded that rs143383 did indeed show significant association with osteoarthritis, at least for knee osteoarthritis, and probably for hand and hip (but to a lesser degree).
GDF5	Rs143383	The effect size wasnt large, though (odds ratio 1.15, CI: 1.09-1.22, p = 9.4 x 10e-7).A haplotype of rs143383 and rs6060369 can be defined, which also links osteoarthritis to height since rs6060369 was linked to height in a study ultimately involving over 28,000 individuals.The Medpage article on this finding notes that rs143383 was previously shown to be associated with increased risk for osteoarthritis and in this recent study it was significantly associated with shorter height in the initial scans, at p=2.70x10e-5.Note that the authors of refer to rs143383 in the opposite orientation compared to its entry in dbSNP.
GDF5	Rs143383	A study of 6,365 elderly Caucasian men and women observed significant association between rs143383 and osteoarthritis, height, bone size and fracture risk in women.
GEMIN4	Rs7813	Black carbon exposures, blood pressure, and interactions with single nucleotide polymorphisms in MicroRNA processing genes.
GEMIN4	Rs7813	Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms.
GEMIN4	Rs3744741	Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk.
GEMIN4	Rs7813	Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma.
GFAP	Rs2289681	Mentioned in a / 23andMe discussion on intelligence.Synonymous Polymorphisms at Splicing Regulatory Sites are Associated with CpGs in Neurodegenerative Disease-Related Genes.
GHR	Rs6873545	The rs6873545 (T) allele correlates with the more common allele containing exon 3; rs6873545 (C) correlates with the less common d3-GHR allele lacking exon 3.
GHRL	Rs26802	Association of maternally inherited GNAS alleles with African-American male birth weight.
GHRL	Rs27647	Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity.
GJB2	I6011458	rs772264564 recessive GJB2 gene variant associated with deafness.
GJB2	I6011464	rs371024165 recessive GJB2 gene variant associated with deafness.
GJB2	I6011465	rs771748289 recessive GJB2 gene variant associated with deafness.
GJB2	I6011476	rs104894395 recessive GJB2 gene variant associated with deafness.
GJB2	I6011479	See rs104894413.
GJB2	Rs104894404	Aka c.176G>A (p.Gly59Asp or G59D) and also c.176G>C (p.Gly59Ala or G59A). both of which are considered likely to be pathogenic in ClinVar for a either a form of nonsyndromic hearing loss and deafness or keratoderma palmoplantar deafness.
GJB2	Rs28931592	Deafness.
GJB2	Rs28931593	Deafness.
GJB2	Rs28931594	This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.Note that there are two variants known at this locus: c.148G>A (Asp50Asn or D50N) and c.148G>T (Asp50Tyr or D50Y).
GJB2	Rs72561723	This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.
GJB2	Rs35887622	rs35887622 represents a relatively frequent variant that was originally reported to be associated with a recessive form of deafness, however more recent reports indicate that is likely to either be benign, or, perhaps, associated with mild hearing impairment, possibly of relatively late onset and progression.A discussion of this variant can be found at OMIM 121011.0001.hereditary non-syndromic sensorineural deafness Connexin mutations and hearing loss.
GJB2	Rs35887622	M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
GJB2	Rs80338947	Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.
GJB2	I6011452	rs786204690 recessive GJB2 gene variant associated with deafness.
GJB2	Rs80338939	This variant is the most common one associated (when present in two copies) with autosomal recessive nonsyndromic hearing loss, i.e.
GJB2	Rs80338942	Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenazi Jewish populations. rs80338942 is designated as I4000435 by 23andMe.
GJB2	Rs80338943	Also known as 235delC, this SNP in the GJB2 gene is one of the most common nonsyndromic recessive deafness-associated variants in eastern Asian populations.
GJB2	Rs80338943	Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
GJB2	Rs80338943	Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
GJB2	Rs28931595	Deafness.
GJB2	Rs767178508	Note both c.439G>T and c.439G>A GJB2 mutations are considered pathogenic for deafness.
GJB2	I6011417	rs111033451 recessive GJB2 gene variant associated with deafness.
GJB2	I6011369	rs150529554 recessive GJB2 gene variant associated with deafness.
GJB2	I4000434	Hearing loss?Connexin 26-Related Nonsyndromic Sensorineural Hearing Losssee rs80338939.
GJB2	I4000435	Hearing loss?Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss rs80338942.
GJB2	I5001987	See rs104894413.
GJB2	I5001996	rs80338948 recessive GJB2 gene variant associated with deafness.
GJB2	I5002001	rs104894396 recessive GJB2 gene variant associated with deafness.
GJB2	I6011385	rs104894409 recessive GJB2 gene variant associated with deafness.
GJB2	I5002003	rs104894395 recessive GJB2 gene variant associated with deafness.
GJB2	I5004479	rs80338943 recessive GJB2 gene variant associated with deafness.
GJB2	I5012697	rs398123814 recessive GJB2 gene variant associated with deafness.
GJB2	I5012698	rs80338942 recessive GJB2 gene variant associated with deafness.
GJB2	I5002002	rs80338944 recessive GJB2 gene variant associated with deafness.
GJB2	I5012709	rs35887622 recessive GJB2 gene variant associated with deafness.
GJB2	I5012707	rs397516874 recessive GJB2 gene variant associated with deafness.
GJB2	I6011362	rs397516875 recessive GJB2 gene variant associated with deafness.
GJB2	I6011319	rs80338946 recessive GJB2 gene variant associated with deafness.
GJB2	I6011309	rs529500747 recessive GJB2 gene variant associated with deafness.
GJB2	I6011363	rs767178508 recessive GJB2 gene variant associated with deafness.
GJB2	I6011302	rs111033294 recessive GJB2 gene variant associated with deafness.
GJB2	I6011293	rs111033194 recessive GJB2 gene variant associated with deafness.
GJB2	I6011292	rs111033295 recessive GJB2 gene variant associated with deafness.
GJB2	I6011303	rs143343083 recessive GJB2 gene variant associated with deafness.
GLA	Rs199473684	rs199473684, also known as c.639+919G>A, represents a variant in the GLA gene on the X chromosome.The minor allele, rs199473684 (A), is reported to be pathogenic for Fabry disease.
GLA	Rs199473684	An extensive discussion of whether this variant is pathogenic can be found in. the consensus among three labs was that it is.Based on, this mutation leads to the cardiac variant phenotype of Fabry disease.
GLA	Rs28935197	Aka c.644A>G (p.Asn215Ser or N215S) The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
GLA	Rs28935490	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
GLB1	Rs72555391	rs72555391, also known as R482H or Arg482His, is a SNP in the galactosidase, beta 1 GLB1 gene.Two defective alleles in the GLB1 can lead to Mucopolysaccharidosis type IVB, and the rs72555391 (A) allele is considered such a causative allele.
GLB1	Rs72555366	Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
GLB1	Rs72555367	Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
GLCCI1	Rs37973	There was only a non-significant trend toward less response in rs37973 (G;G) patients.In a study of 400 Japanese patients with bronchial asthma receiving inhaled corticosteroids, the pulmonary function was not significantly different in rs37973 (G;G) compared with rs37973 (A;A) genotypes.
GLDC	Rs121964980	C.2216G>A (p.Arg739His) 23andMe calls this i5007987.
GLDC	Rs121964979	C.1166C>T (p.Ala389Val) 23andMe calls this i5007986.
GLDC	I5007987	rs121964980 Non-ketotic hyperglycinemia.
GLDC	I5007986	rs121964979 Non-ketotic hyperglycinemia.
GLDC	I5007985	rs121964978 Non-ketotic hyperglycinemia.
GLDC	I5007984	rs121964977 Non-ketotic hyperglycinemia.
GLIS3	Rs1574285	Member of type-1 diabetes polygenic risk score.
GNAO1	Rs1114167431	OMIM pathogenic.
GNB3	Rs4963516	Novel genetic variants in the alpha-adducin and guanine nucleotide binding protein beta-polypeptide 3 genes and salt sensitivity of blood pressure.
GNPTAB	Rs137853825	Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.In 2016, 3- to 8-day old mice pups engineered to carry two copies of the Glu1200Lys mutation were observed to have significantly longer pauses in their spontaneous vocalizations than littermates not carrying the mutations, consistent with some features of human stuttering.
GNPTAB	Rs137853825	Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect.
GNPTAB	Rs137853823	Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.
GNPTAB	Rs137853824	rs137853824, also known as c.961A>G, Ser321Gly or S321G, is a variant in the GNPTAB gene on chromosome 12.The minor (G) allele of rs137853824 was a rare mutation in the GNPTAB gene associated with stuttering in a 2010 study.
GNPTAB	Rs137853825	rs137853825, also known as c.3598G>A, Glu1200Lys or E1200K, is a variant in the GNPTAB gene on chromosome 12.The minor (A) allele of rs137853825 was the most common of several mutations in the GNPTAB gene associated with stuttering in a 2010 study.
GNPTG	Rs137853826	rs137853826, also known as c.74C>A, Ala25Glu or A25E, is a variant in the TSR3 gene on chromosome 16.The minor (A) allele of rs137853826 was reported as a mutation in the GNPTG gene associated with stuttering in a 2010 study.
GPHN	Rs776038451	Aka NM_004569.4 (PIGH) :c.307T>C or (p.Ser103Pro) OMIM pathogenic variant.
GPX1	Rs1050450	Serum selenium and single-nucleotide polymorphisms in genes for selenoproteins: relationship to markers of oxidative stress in men from Auckland, New Zealand.
GPX4	Rs757228	This is one of the SNPs reported by NutraHacker.
GRHPR	I5012628	Primary hyperoxaluria type 2Note: 23andMe may have discontinued reporting results for this SNP, as several Promethease users have reported it is not included in their data. rs80356708.
GRHPR	Rs80356708	Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
GRIN1	Rs11146020	W/ schizophrenia in a sample of 2455 Han Chinese mentioned w/ possible schizophrenia association in a sample of 677 Germans (354 patients, 323 controls), but the initial association did not survive multiple correction.
GRIN1	Rs771610568	Aka NM_007327.3 (GRIN1) :c.1950C>G or (p.Asn650Lys) OMIM pathogenic variant.
GRIN2B	Rs7301328	Noted with<br> lithium response and bipolar disorder with any GRIN2B SNPs tested ( rs7301328 |366G/C, rs1019385 |-200G/T and rs890 ) <br> alcoholism<br> treatment-refractory schizophrenia - not a major risk factor, higher mean clozapine dosage noted with the rs1806201 (C;C) genotype.
GRIN2B	Rs1805502	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimers disease.
GRIN2B	Rs3764028	34.69-39.79% decreased transcriptional activity (per luciferase reporter assay in SH-SY5Y and HeLa cell lines) noted for the C allele versus the A allele.
GRN	Rs794729669	rs794729669, also known as c.462+1G>C, represents a very rare mutation in the GRN gene on chromosome 17.The rs794729669 (C) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs9897526	Associated with risk of amyotrophic lateral sclerosis (ALS) in two European populations.
GRN	Rs850713	Associated with risk of amyotrophic lateral sclerosis (ALS) in two European populations.
GRN	Rs794729672	rs794729672, also known as c.87dupC and p.Cys30Leufs, represents a very rare mutation in the GRN gene on chromosome 17.The rs794729672 (C) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs794729671	rs794729671, also known as c.1246dupT and p.Cys416Leufs, represents a very rare mutation in the GRN gene on chromosome 17.The rs794729671 (T) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs63751294	Distinct genetic forms of frontotemporal dementia.
GRN	Rs63751243	OMIM reports the rs63751243 (A) allele as representing a dominantly inherited mutation associated with ubiquitin-positive frontotemporal lobar degeneration.
GRN	Rs606231221	rs606231221, also known as c.835+1G>A, represents a very rare mutation in the GRN gene on chromosome 17.The rs606231221 (CCTG) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs606231220	rs606231220, also known as c.93_96dupCCTG and p.Asp33Profs, represents a very rare mutation in the GRN gene on chromosome 17.The rs606231220 (CCTG) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs34424835	Associated with risk of amyotrophic lateral sclerosis (ALS) in two European populations.
GRN	Rs193026789	rs193026789, also known as c.1212C>A and p.Cys404Ter, represents a very rare mutation in the GRN gene on chromosome 17.The rs193026789 (A) mutation is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs63751294	Characteristics of frontotemporal dementia patients with a Progranulin mutation.
HABP2	Rs7080536	The HBAP2 gene may also be referred to as FSAP (Factor VII Activating Protein or Protease) in some texts.The rs7080536 (A) allele is associated as a risk factor for several conditions, including: Carotid stenosis A study of 800+ individuals found odds ratio of 6.6 CI:1.6 - 27.7.
HBA1	I4990131	rs34806456 see HBA2 and Alpha Thalassemia.
HBA2	Rs41464951	The reference allele is (T) for rs41464951, a SNP in the HBA2 gene on chromosome 16, and all three missense alternatives are known, leading to c.427T>A, c.427T>Cand c.427T>G, with three similar consequences: c.427T>A (p.Ter143Lys) is known as Hemoglobin Icaria and can lead to the subtype of alpha thalassemia known as Hemoglobin H disease c.427T>C (p.Ter143Gln) is known as Hemoglobin Constant Spring and may also lead to Hemoglobin H disease c.427T>G (p.Ter143Glu) is known as Hemoglobin Seal Rock and may also lead to Hemoglobin H disease.
HBA2	I5900735	rs41474145 see HBA2 and Alpha Thalassemia.
HBA2	I5900722	rs281864889 see HBA2 and Alpha Thalassemia.
HBA2	I5900654	rs281864817 see HBA2 and Alpha Thalassemia.
HBA2	I5004436	rs281864819 see HBA2 and Alpha Thalassemia.
HBA2	I5004432	rs587776827 see HBA2 and Alpha Thalassemia.
HBA2	I4990131	rs34806456 see HBA2 and Alpha Thalassemia.
HBA2	I5004445	rs33987053 see HBA2 and Alpha Thalassemia.
HBB	Rs33915217	Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.
HBB	Rs33931746	Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
HBB	Rs33986703	Human gene mutation database-a biomedical information and research resource.
HBB	Rs34690599	Beta Thalassemia/ The beta-thalassaemia mutations in the population of Cyprus.
HBB	Rs34690599	Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.
HBB	Rs35004220	Beta Thalassemia/.
HDC	Rs854150	See Tourette syndrome.
HDC	Rs1894236	See Tourette syndrome.
HERC2	Rs2238289	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br> Genetic determinants of hair and eye colours in the Scottish and Danish populations.
HERC2	Rs916977	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.PMID 18172690, PMID 18252221The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br>.
HEXA	I4000391	Tay-Sachs Disease; infantile form rs387906309.
HEXA	I4000436	Tay-Sachs Disease; adult form rs121907954.
HEXA	I4000438	Tay-Sachs Disease; infantile form rs76173977.
HEXA	I4000440	Note however that the person may still carry (on their other chromosome 15) a true Tay Sachs causing allele. rs138058578.
HEXA	Rs117160567	Aka c.672+30T>GAlthough reported in ClinVar as pathogenic for Tay Sachs, the consensus seems to be that this variant is likely to be benign, because its seen at a higher frequency in general and because minor homozygotes have been observed in large-scale sequencing projects.
HFE	Rs1800562	During the seven year follow-up, 15.7% of homozygous men developed at least one incident associated condition versus 5.0% (p<0.001) with no p.C282Y mutations; for women, it was 10.1% vs 3.4%, p<0.001).Women who are rs1800562 (A) homozygotes are less affected by hemochromatosis due to elimination of excess iron during menstruation, but may become affected after menopause.Carriers of one rs1800562 (A) may be affected by a mild form of hemochromatosis if also a carrier of rs1799945 (G) H63D.According to Coriell, in Caucasian populations: (A;A) - 0.4% of individuals, carrying 2 copies of the risk variant (33-57% of such males will have quite elevated iron levels; 3-16% if female) (G;A) - 12% carry 1 copy of the risk variant and 1 copy of the non-risk variant (G;G) - 87.6% carry (only) the non-risk variant Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate?.
HFE	Rs1800562	Early identification of rs1800562 (A;A) homozygotes can prevent complications of hemochromatosis; however, the percentage of all (A;A) homozygotes who actually develop clinical signs of hemochromatosis may be relatively low, may depend on sex (see below), and appears to be influenced by other SNPs yet to all be discovered as well as (unidentified) environmental factors, possibly including the amount of iron in the diet.In rs1800562 (A;A) patients who do develop hemochromatosis, a SNP has been identified which increases the risk of cardiomyopathy (a form of heart disease).
HFE	Rs28934595	Porphyria.
HFE	Rs1800562	P.C282Y homozygous men aged 40 to 70 had a higher prevalence of diagnosed hemochromatosis (OR 411.1, CI: 299-565, p<0.001), liver disease (4.30, 2.97-6.18, p<0.001), rheumatoid arthritis (2.23, 1.51-3.31, p<0.001), osteoarthritis (2.01, 1.71-2.36, p<0.001), and diabetes mellitus (1.53, 1.16-1.98, p=0.002), versus 175,000+ controls (people with no p.C282Y mutations).
HFE	Rs1800730	rs1800730, also known as S65C or Ser65Cys, is associated with a mild form of hemochromatosis. in SNPedia, see also i3002468.
HFE	Rs1800562	At least in the UK (Caucasian) population, a 2019 survey reported that of 2890 participants homozygous for p.C282Y (0.6%, or 1 in 156), hemochromatosis was diagnosed in 21.7% of men and 9.8% of women over an average follow up (~7 years).
HFE	Rs1800562	rs1800562 represents a SNP that accounts for ~85% of all cases of hemochromatosis, a disorder whose symptoms include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure.
HFE	Rs1800562	rs4880 (T;T) homozygotes are at ~10 fold increased risk for dilated- or non-dilated cardiopathy based on a study of 217 patients. rs235756, a SNP in the BMP2 gene, is another SNP that may influence the development of hemochromatosis in rs1800562 (A;A) individuals, at least if serum transferrin levels are a good indication.
HFE	Rs1800562	OMIM indicates that liver cancer is responsible for about one-third of deaths of rs1800562 (A;A) homozygotes, and since hemochromatosis is a relatively easily treated disorder if diagnosed, this is a form of preventable cancer.The rs1800562 (A) allele is known as the C282Y or Cys282Tyr mutation, and it is found at a frequency of around 5-10% in many Caucasian populations, leading to an incidence of (A;A) homozygotes around 1 in 200.
HFE	I3002468	Hemochromatosis related; better known in dbSNP nomenclature as rs1800730 / discussion at 23andMe.
HFE	Rs1800562	So what percent of rs1800562 (A;A) individuals actually develop clinical signs of hemochromatosis?.
HGF	Rs2286194	Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
HGF	Rs3735520	Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
HLA-A	Rs1061235	The presence of this HLA allele increases the risk from 5% to 26%, whereas its absence reduces the risk from 5% to 4%.
HLA-A	Rs3093665	Toll-like receptor signaling pathway variants and prostate cancer mortality.
HLA-B	Rs3819299	Perhaps the best known HLA-B27 tag SNP is rs116488202, located about 23kb away from rs3819299, but the former SNP is not tested on many platforms (for example, it is not tested by Ancestry), while the latter is and can be used as a proxy assuming strong enough linkage disequilibrium (which is likely at least in European populations but perhaps not others). rs3819299 is reported to be associated with a (minor) impact on platelet count, but not with an association to ankylosing spondylitis (which is well reported as associated with HLA-B27). rs3819299 is cited in this patent as associated with HLA-B 4002 in the JPT population.
HLA-B	Rs3817964	In particular, 0401/ 0404 individuals are reported to have an odds ratio for rheumatoid vasculitis of 4.1 (CI: 1.1 - 16.2), and 0401/ 0101 individuals have an odds ratio of 4.0 (CI: 1.4 - 11.6).
HLA-B	Rs79556279	Primary risk for Behçets disease associated with the minor (T) allele of rs79556279 A meta-analysis totaling ~5,000 Behçets disease (BD) patients from 78 independent studies calculated a pooled odds ratio of 5.78 (CI: 5.0-6.7) for HLA-B51/B5 allele carriers to develop BD compared with noncarriers.
HLA-B	Rs76546355	rs76546355 (A) is a risk allele for Behçets disease.HLA-B 51 allele and the rs76546355 MHC SNP are independent genetic risk factors for Behçets disease in Iranian, and that positivity for the rs76546355 risk allele, but not for B 51, does correlate with specific demographic characteristics or clinical manifestations in Behçets disease patients.
HLA-B	Rs6903896	Common trait being photic sneeze reflex.
HLA-B	Rs3817964	This SNP, along with SNPs rs6910071 and rs660895, is a tag SNP for the HLA-DRB1 0401 allele.The HLA-DRB1 0401 allele has been associated with higher risk for rheumatoid arthritis, and in particular, rheumatoid vasculitis.
HLA-B	Rs4349859	Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?.
HLA-B	Rs3093665	Toll-like receptor signaling pathway variants and prostate cancer mortality.
HLA-B	Rs2395029	HIV-1 nonprogressors (odds ratio, 3.47) Marker HLA-B 5701 hypersensitivity to the HIV drug abacavir; FDA warning hereHIV ProgressionAbacavir HypersensitivityFloxacillin Toxicity.
HLA-B	Rs2395029	HCP5 is a good candidate to interact with HIV-1, possibly through an antisense mechanism.
HLA-B	Rs2395029	This SNP is estimated to explain 9.6% of the total variation in the viral set point.Humans show remarkable variation in vulnerability to infection by HIV-1 and especially in the clinical outcome following infection.
HLA-B	Rs2073724	Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.
HLA-B	Rs13202464	See: HLA-B27|HLA-B27 Syndromes.Not all alleles of HLA-B27 are at risk for B27 Syndromes, please check the HLA-B27 page for details.
HLA-B	Rs3093668	Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population.
HLA-C	Rs10484554	Host Genes Important to HIV Replication and Evolution.
HLA-DQB1	Rs1049225	778 Common variable immunodeficiency disorder (CVID) cases compared with 10,999 controls using the Illumina Immunochip; confirming the previously reported human leukocyte antigen (HLA) associations on chromosome 6p21.
HLA-DQB1	Rs1063355	Linked to asthma, anti-CCP-positive rheumatoid arthritis.
HLA-DQB1	Rs1063355	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
HLA-DQB1	Rs4988889	Source natureCeliac diseased rs4988889 (T) + rs2858331 (C).
HLA-DQB1	Rs7775228	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
HLA-DRB1	Rs3817964	This SNP, along with SNPs rs6910071 and rs660895, is a tag SNP for the HLA-DRB1 0401 allele.The HLA-DRB1 0401 allele has been associated with higher risk for rheumatoid arthritis, and in particular, rheumatoid vasculitis.
HLA-DRB1	Rs3817964	In particular, 0401/ 0404 individuals are reported to have an odds ratio for rheumatoid vasculitis of 4.1 (CI: 1.1 - 16.2), and 0401/ 0101 individuals have an odds ratio of 4.0 (CI: 1.4 - 11.6).
HLA-DRB1	Rs7451962	Source natureMultiple sclerosis rs9268428 (C) + rs6457594 (A) + rs7451962 (C).
HLA-G	Rs12722477	rs12722477, also known as Leu134Ile, a SNP of the HLA-G gene, was significantly associated with Kawasaki disease (odds ratio 3.23, CI = 1.12-9.32), based on an initial study of 48 cases and a replication study with 44 cases.
HMBS	Rs1057518806	C.958delG (p.Ala320Leufs) reported as likely pathogenic in ClinVar, in gene associated with acute intermittent porphyria.
HMBS	Rs536814318	Aka c.532G>A, p.Asp178Asn, D178NHMBS enzyme from the variant allele of this SNP is reported to have 81% of the activity of the normal, wild-type; it is reported as likely to be pathogenic in ClinVar, presumably for acute intermittent porphyria.
HMGA2	Rs1042725	In men rs1042725 may explain 3% of height variability.
HMGA2	Rs10784502	Associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 &#215; 10&#8722;12) ) has higher cranial capacity (about 2 teaspoons) and over 2% higher IQ.
HMGA2	Rs17179670	rs17179670 is a SNP implicated in Tooth Development.
HMOX1	Rs2071746	A case-control study of 300 patients with Alzheimers disease found that subjects carrying both the rs2071746 (T;T) and rs242557 (A;A) genotypes had a 6.65x increased risk (CI: 1.12-39.29; p = 0.037) compared to subjects without these risk genotypes.This combination of SNPs is encapsulated in the gs124 genoset.
HNF1A	Rs1169288	30%) associated with lower CRP levels.
HNF1A	Rs1169300	CRP SNPs were not associated with colorectal, prostate or breast cancer risk.
HNF1A	Rs1169305	Now considered benign in ClinVar.
HNF1A	Rs1183910	/ 23andMe blog each rs1183910 (T) lowered CRP by 13.8% also associated with higher total cholesterol, LDL choesterol and HDL cholesterol.
HNF1A	Rs140491072	The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY) -3.
HNF1A	Rs151344538	Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
HNF1A	Rs151344539	Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
HNF1A	Rs193922587	The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY) -3.
HNF1B	Rs3760511	rs3760511 increases susceptibility to Prostate cancer 1.16 times for carriers of the C allele.
HNF1B	Rs7405696	Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.
HNF1B	Rs7501939	rs7501939 identified as one of three HNF1B gene SNPs associated with decreased risk for prostate cancer in two large prospective studies / cancer-genetics these SNPs influence genetic risk for prostate cancer the haplotype rs6983267 rs1016343 rs4242384 rs7501939 rs1859962 rs2660753 rs9364554 rs6465657 rs10993994 rs7931342 rs2735839 rs5945619 rs10993994.
HNF1B	Rs757210	In a study conducted on 6,580 Nondiabetic Finnish Men, rs757210 in HNF1B gene showed nominal or significant associations with several lipoprotein traits.
HNMT	Rs1050891	According to the lack of a C allele for this gene indicates an increase in ADHD behavior for children age 3 and 8/9 when they have been exposed to certain food additives: sunset yellow, carmoisine, tartrazine, ponceau 4R, quinoline yellow, allura red AC and sodium benzoate.
HOXB13	Rs138213197	Of 877 patients, 6 women with BRCA1/2 wild-type, familial breast cancer (none Ashkenazi) Jewish ancestry had the variant, hence an odds ratio 5.7 (CI: 1-40, p=0.02).Additional studies examining the origin of the G84E variant have determined that the haplotype background it is seen within is observed most frequently in Nordic countries, most strikingly within the Finnish population, suggesting that rs138213197 is a founder mutation that arose around the year 1800 in Northern Europe.
HPD	Rs1154510	rs1154510, also known as c.97G>A, p.Ala33Thr and A33T, represents a SNP in the HPD gene on chromosome 12.Although the rs1154510 (A) minor allele is listed in ClinVar as pathogenic as a dominant mutation leading to hawkinsinuria, this seems quite unlikely given that the frequency of this minor allele is around 10 - 15% in most populations.
HPS5	Rs61884288	It was previously reported to be pathogenic for Hermansky-Pudlak syndrome, type 5.
HRAS	Rs104894229	Aka c.34G>A (p.Gly12Ser).
HRAS	Rs28933406	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
HSD17B4	Rs137853096	Aka c.46G>A (p.Gly16Ser or G16S) 23andMe name: i5007145.
HSD17B4	Rs25640	Aka c.317G>C (p.Arg106Pro), but also c.317G>A (p.Arg106His) c.316G>C is a mutation pathogenic (when inherited recessively) for D-bifunctional protein deficiency; c.316G>A is a benign polymorphism.
HSD3B2	I5003811	rs803582213 HSDB2 deficiency based on HSD3B2 mutation; congenital adrenal hyperplasia, recessively inherited.
HSD3B2	I5003813	rs803582193 HSDB2 deficiency based on HSD3B2 mutation; congenital adrenal hyperplasia, recessively inherited.
HSD3B2	Rs770815049	rs770815049, also known as c.555_556insC and p.Thr187Hisfs, represents a rare mutation in the HSD3B2 gene on chromosome 1.
HSD3B2	I5003815	rs803582173 HSDB2 deficiency based on HSD3B2 mutation; congenital adrenal hyperplasia, recessively inherited.
HSPG2	Rs762281715	Aka c.10894C>T, p.Arg3632Ter and R3632XConsidered pathogenic for Schwartz Jampel syndrome type 1 and Lethal Kniest-like syndrome (DDSH) in ClinVar; note however that the first is inherited recessively while the latter is usually considered to be inherited dominantly.
HTR2A	Rs7984966	C allele associated with ADHD in adults.This studys data while replicating the association of rs7984966 with ADHD behaviors, instead points to the T allele as being the cause.
HTR2A	Rs7330461	A 2016 publication based on data from 1115 Caucasian patients with schizophrenia reported that the T/T genotype at rs7330461 is consistently associated with an increased treatment response to 40 mg twice daily pomaglumetad methionil (LY2140023 monohydrate) compared to the A/A genotype.
HTR2A	Rs7322347	Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.
HTR2A	Rs6314	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs6313	Note: the orientation of rs1328674 in dbSNP is opposite that cited by this publication; therefore, with respect to dbSNP, the haplotype of risk as cited above is CACC rather than CTCC.see also gs108 and gs226 Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.
HTR2A	Rs6311	May effect promoter activity (in the presence of a SV40 enhancer, promoter activity was significantly higher with the A allele than a G allele, but only in cell lines expressing endogenous HTR2A) -1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in development of the nervous system Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.
HTR2A	Rs655888	Found that this is in linkage disequilibrium with rs643627.
HTR2A	Rs594242	Three ( rs643627 - rs594242 - rs6311 : A-C-T), two ( rs594242 - rs6311 : C-T) and a single functional ( rs6311 : T) marker were protective against suicidal behavior.
HTR2A	Rs582385	Genetic variation in the HTR2A|serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs2770296	: Haplotype association analysis suggests that the haplotype CCGCA (at SNPs rs3125, rs6314, rs1923886, rs2224721 and rs2770296 ) is protective against bipolar disorder (P = 0.021, odds ratio 0.63) and the rarer haplotype CCACG confers risk to the disorder (P = 0.0065, odds ratio 3.08)..
HTR2A	Rs2224721	: Haplotype association analysis suggests that the haplotype CCGCA (at SNPs rs3125, rs6314, rs1923886, rs2224721 and rs2770296 ) is protective against bipolar disorder (P = 0.021, odds ratio 0.63) and the rarer haplotype CCACG confers risk to the disorder (P = 0.0065, odds ratio 3.08)..
HTR2A	Rs1923886	: Haplotype association analysis suggests that the haplotype CCGCA (at SNPs rs3125, rs6314, rs1923886, rs2224721 and rs2770296 ) is protective against bipolar disorder (P = 0.021, odds ratio 0.63) and the rarer haplotype CCACG confers risk to the disorder (P = 0.0065, odds ratio 3.08)..
HTR2A	Rs594242	The complementary makers ( rs594242 - rs6311 : G-C and rs6311 : C) were associated with increased risk for non-violent and impulsive suicidal behavior.
HTRA1	Rs1049331	rs11200638 1.7x10-14 (-625G>A) is the most significant associated SNP with a high OR of 7.6 (95%CI: 3.94-14.51) rs2672598 3.0x10-10 (-487T>C) rs1049331 3.7x10-12 (102C>T, Ala34Ala) rs2293870 3.7x10-12 (108G>T, Gly36Gly) haplotype ACCTT, significantly predisposes to AMD (p= 6.68x10-14) smoking and rs800292 (184G>A, Val62Ile) of CFH.
HTRA1	Rs932275	Nature age related macular degeneration is associated with five highly correlated SNPs ( rs10490924, rs3750848, rs3793917, rs11200638 and rs932275. r2 < 0.88) showed strongest association with AMD (2.72 < OR < 2.86).
HTRA1	Rs3793917	Association of genetic polymorphisms and age-related macular degeneration in chinese population.
HTRA1	Rs3793917	An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.
HTRA1	Rs3793917	Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
HTRA1	Rs3793917	Nature age related macular degeneration is associated with five highly correlated SNPs ( rs10490924, rs3750848, rs3793917, rs11200638 and rs932275. r2 < 0.88) showed strongest association with AMD (2.72 < OR < 2.86) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
HTRA1	Rs3793917	Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration.
HTRA1	Rs2672598	rs11200638 1.7x10-14 (-625G>A) is the most significant associated SNP with a high OR of 7.6 (95%CI: 3.94-14.51) rs2672598 3.0x10-10 (-487T>C) rs1049331 3.7x10-12 (102C>T, Ala34Ala) rs2293870 3.7x10-12 (108G>T, Gly36Gly) haplotype ACCTT, significantly predisposes to AMD (p= 6.68x10-14) smoking and rs800292 (184G>A, Val62Ile) of CFH.
HTRA1	Rs2293870	rs2293870 and rs11200638 are among the most significantly associated HTRA1 SNPs with age related macular degeneration.
HTRA1	Rs2293870	rs2293870 showed as strong an association with increased susceptibility to neovascular age related macular degeneration as the haplotypes containing rs10490924 and rs11200638.
HTRA1	Rs1049331	The combined OR for disease of smoking and rs11200638 (HTRA1) caused a 15.7 fold increased risk The combined OR for rs800292 and rs11200638 showed a 23.3 fold increased risk An extremely high population attributable risk (PAR) of 78% was also found.
HTRA1	Rs2672598	The combined OR for disease of smoking and rs11200638 (HTRA1) caused a 15.7 fold increased risk The combined OR for rs800292 and rs11200638 showed a 23.3 fold increased risk An extremely high population attributable risk (PAR) of 78% was also found.
IDS	Rs781997631	C.191T>A (p.Ile64Asn) and also c.191T>C (p.Ile64Thr). the former is considered pathogenic for MPS type II.
IFIH1	Rs35337543	rs35337543, also known as c.1641+1G>C, represents a variant in the IFIH1 gene on chromosome 2.Based on a study of UK BioBank participants, carriers of a rs35337543 (C) allele are reported to be at reduced risk of developing hypothyroidism (OR 0.77, CI:0.70-0.85, p=5×10e−9).
IFNL3	Rs8103142	The rs8099917 polymorphism, when determined by a suitable genotyping method, is a better predictor for response to pegylated alpha interferon/ribavirin therapy in Japanese patients than other single nucleotide polymorphisms associated with interleukin-28B.
IFNL4	Rs12979860	Prediction of response to pegylated interferon plus ribavirin in HIV/hepatitis C virus (HCV) -coinfected patients using HCV genotype, IL28B variations, and HCV-RNA load.
IFNL4	Rs12979860	IL28B polymorphisms are markers of therapy response and are influenced by genetic ancestry in chronic hepatitis C patients from an admixed population.
IFNL4	Rs12979860	Spontaneous clearance of primary acute hepatitis C virus infection correlated with high initial viral RNA level and rapid HVR1 evolution.
IFNL4	Rs12979860	IL28B polymorphisms influence stage of fibrosis and spontaneous or interferon-induced viral clearance in thalassemia patients with hepatitis C virus infection.
IFNL4	Rs12979860	Natural killer inhibitory receptor expression associated with treatment failure and interleukin-28B genotype in patients with chronic hepatitis C. Impact of IL28B on treatment outcome in hepatitis C virus G1/4 patients receiving response-guided therapy with peginterferon alpha-2a (40KD) /ribavirin.
IFNL4	Rs12979860	Effect of IL28B genotype on early viral kinetics during interferon-free treatment of patients with chronic hepatitis C. Hepatic cell-type specific gene expression better predicts HCV treatment outcome than IL28B genotype.
IFNL4	Rs12979860	IL28B polymorphism is associated with treatment response in patients with genotype 4 chronic hepatitis C. Efficacy of chronic hepatitis C therapy with pegylated interferon and ribavirin in patients on methadone maintenance treatment.
IFNL4	Rs12979860	Interleukin 28B polymorphism predicts pegylated interferon plus ribavirin treatment outcome in chronic hepatitis C genotype 4.
IFNL4	Rs12979860	Treatment of chronic hepatitis C genotype 1 patients at an academic center in Europe involved in prospective, controlled trials: is there a selection bias?.
IFNL4	Rs12979860	Genetic variation in interleukin-28B predicts SVR in hepatitis C genotype 1 Argentine patients treated with PEG IFN and ribavirin.
IFNL4	Rs12979860	Interleukin 28B genotype determination using DNA from different sources: A simple and reliable tool for the epidemiological and clinical characterization of hepatitis C. Polymorphism near the IL28B gene in Korean hepatitis C virus-infected patients treated with peg-interferon plus ribavirin.
IFNL4	Rs12979860	Association between IL28B polymorphisms and first-phase viral load decrease in chronic hepatitis C virus-infected patients treated with peginterferon alfa-2b/ribavirin.
IFNL4	Rs12979860	Impact of IL28B gene polymorphisms on interferon-lambda3 plasma levels during pegylated interferon-alpha/ribavirin therapy for chronic hepatitis C in patients coinfected with HIV.
IFNL4	Rs12979860	A single IL28B genotype SNP rs12979860 determination predicts treatment response in patients with chronic hepatitis C Genotype 1 virus.
IFNL4	Rs12979860	Recipient IL28B polymorphism is an important independent predictor of posttransplant diabetes mellitus in liver transplant patients with chronic hepatitis C. Genetic variation in IL28B is associated with the development of hepatitis B-related hepatocellular carcinoma.
IFNL4	Rs12979860	IL28B genetic variants and gender are associated with spontaneous clearance of hepatitis C virus infection.
IFNL4	Rs12979860	Dysregulation of innate immunity in hepatitis C virus genotype 1 IL28B-unfavorable genotype patients: Impaired viral kinetics and therapeutic response.
IFNL4	Rs12979860	Predicting sustained viral response to hepatitis C using a rapid and simple IL28B rs8099917 genotyping assay.
IFNL4	Rs12979860	Role of IL28B polymorphism in the development of hepatitis C virus-induced hepatocellular carcinoma, graft fibrosis, and posttransplant antiviral therapy.
IFNL4	Rs12979860	The interleukin 28B rs12979860 C/T polymorphism and serum cholesterol as predictors of fibrosis progression in patients with chronic hepatitis C and persistently normal transaminases.
IFNL4	Rs12979860	Association of two polymorphisms of the IL28B gene with viral factors and treatment response in 1,518 patients infected with hepatitis C virus.
IFNL4	Rs12979860	Vitamin D levels and IL28B polymorphisms are related to rapid virological response to standard of care in genotype 1 chronic hepatitis C. Development of new IL28B genotyping method using Invader Plus assay.
IFNL4	Rs12979860	The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection.
IFNL4	Rs12979860	IL28B favorable genotype and ultrarapid viral response as the earliest treatment predictors of a sustained viral response in a Georgian cohort infected with the hepatitis C genotype 1.
IFNL4	Rs12979860	Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C. Comparison of three different methods for the evaluation of IL28 and ITPA polymorphisms in patients infected with HCV.
IFNL4	Rs12979860	A straightforward genotyping of the relevant IL28B SNPs for the prediction of hepatitis C treatment outcome.
IFNL4	Rs12979860	Early viral load and recipient interleukin-28B rs12979860 genotype are predictors of the progression of hepatitis C after liver transplantation.
IFNL4	Rs12979860	IL28B genotype effects during early treatment with peginterferon and ribavirin in difficult-to-treat hepatitis C virus infection.
IFNL4	Rs12979860	IL28B rs12979860 genotype and spontaneous clearance of hepatitis C virus in a multi-ethnic cohort of injection drug users: evidence for a supra-additive association.
IFNL4	Rs12979860	Genetic variation in the interleukin-28B gene is not associated with fibrosis progression in patients with chronic hepatitis C and known date of infection.
IFNL4	Rs12979860	Several studies now indicate that this SNP predicts hepatitis C treatment-induced viral clearance.
IFNL4	Rs12979860	These studies indicate that the virus was eradicated in ~80% of (C;C) patients, compared to only about 25% of those with (T;T), while (C;T) response was intermediate.PMID 19684573, PMID 19749758, PMID 19749757FDA PGx mentions about rs12979860 with respect to Boceprevir, Simeprevir, Sofosbuvir, and Telaprevir/ 23andMe blog rs8099917 (C) less likely to respond to Hepatitis C treatment.A functional SNP rs368234815 (TT) corresponds to the rs12979860 (C). rs12979860 (C;C) better able to become naturally Hepatitis C virus-free. rs12980275 (A) usually corresponds to the rs12979860 (C) Genetic variation in IL28B and spontaneous clearance of hepatitis C virus.
IFNL4	Rs12979860	Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus.
IFNL4	Rs12979860	An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response.
IFNL4	Rs12979860	Impact of IL28B genotype on the early and sustained virologic response in treatment-naive patients with chronic hepatitis C. Prediction of response to pegylated interferon plus ribavirin by IL28B gene variation in patients coinfected with HIV and hepatitis C virus.
IFNL4	Rs12979860	IL28B polymorphisms and chronic hepatitis C. IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. IL28B polymorphism does not determine outcomes of hepatitis B virus or HIV infection.
IFNL4	Rs12979860	The IL-28 genotype: how it will affect the care of patients with hepatitis C virus infection.
IFNL4	Rs12979860	Importance of IL28B gene polymorphisms in hepatitis C virus genotype 2 and 3 infected patients.
IFNL4	Rs12979860	Predictive value of the IL28B polymorphism on the effect of interferon therapy in chronic hepatitis C patients with genotypes 2a and 2b.
IFNL4	Rs12979860	Early virologic response and IL28B polymorphisms in patients with chronic hepatitis C genotype 3 treated with peginterferon alfa-2a and ribavirin.
IFNL4	Rs12979860	Interferon-lambda serum levels in hepatitis C. IL-28B rs12979860 C/T allele distribution in patients with liver cirrhosis: role in the course of chronic viral hepatitis and the development of HCC.
IFNL4	Rs12979860	Impact of donor and recipient IL28B rs12979860 genotypes on hepatitis C virus liver graft reinfection.
IFNL4	Rs12979860	Quantitation of pretreatment serum interferon-gamma-inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response.
IFNL4	Rs12979860	IL-28B predicts response to chronic hepatitis C therapy--fine-mapping and replication study in Asian populations.
IFNL4	Rs12979860	Peginterferon and ribavirin treatment for hepatitis C virus infection.
IFNL4	Rs12979860	IL28B polymorphisms predict reduction of HCV RNA from the first day of therapy in chronic hepatitis C. IL28B genetic variation and treatment response in patients with hepatitis C virus genotype 3 infection.
IFNL4	Rs12979860	Different distributions of hepatitis C virus genotypes among HIV-infected patients with acute and chronic hepatitis C according to interleukin-28B genotype.
IFNL4	Rs12979860	Coffee consumption is associated with response to peginterferon and ribavirin therapy in patients with chronic hepatitis C. Association between IL28B gene polymorphisms and plasma HCV-RNA levels in HIV/HCV-co-infected patients.
IFNL4	Rs12979860	IL28B rs12979860 C/T polymorphism in elderly chronic hepatitis C patients treated with pegylated-interferon and ribavirin.
IFNL4	Rs12979860	Portal pressure predicts outcome and safety of antiviral therapy in cirrhotic patients with hepatitis C virus infection.
IFNL4	Rs12979860	Impact of patatin-like phospholipase-3 ( rs738409 C>G) polymorphism on fibrosis progression and steatosis in chronic hepatitis C. Real-time polymerase chain reaction assay based on high-resolution melting analysis for the determination of the rs12979860 polymorphism involved in hepatitis C treatment response.
IFNL4	Rs12979860	Low-density lipoprotein receptor genotyping enhances the predictive value of IL28B genotype in HIV/hepatitis C virus-coinfected patients.
IFNL4	Rs12979860	Influence of interleukin-28B single-nucleotide polymorphisms on progression to liver cirrhosis in human immunodeficiency virus-hepatitis C virus-coinfected patients receiving antiretroviral therapy.
IFNL4	Rs12979860	Interleukin-28B genotyping by melt-mismatch amplification mutation assay PCR analysis using single nucleotide polymorphisms rs12979860 and rs8099917, a useful tool for prediction of therapy response in hepatitis C patients.
IFNL4	Rs12979860	IL28B polymorphisms determine early viral kinetics and treatment outcome in patients receiving peginterferon/ribavirin for chronic hepatitis C genotype 1.
IFNL4	Rs12979860	Beneficial IL28B genotype associated with lower frequency of hepatic steatosis in patients with chronic hepatitis C. The predictive value of IL28B gene polymorphism for spontaneous clearance in a single source outbreak cohort is limited in patients carrying the CCR5Delta32 mutation.
IFNL4	Rs12979860	Interleukin-28B polymorphisms are associated with histological recurrence and treatment response following liver transplantation in patients with hepatitis C virus infection.
IGF1	Rs2195239	Genetic variation and circulating levels of IGF-I and IGFBP-3 in relation to risk of proliferative benign breast disease.
IGF1	Rs12423791	Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Mens Health Study.
IGF1	Rs6220	Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
IGF1R	Rs34516635	Higher IGF1 levels and an average decrease in maximal lifetime appearance|height of 2.5cm were also reported to be associated with (female Ashkenazi) centenarians.
IGF2BP2	Rs11705701	Type-2 diabetes, insulin sensitivity, and obesity with body fat decreasing ~1.5-2% per copy of the A allele.
IGF2BP2	Rs1470579	rs1470579 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.18 (CI: 1.07-1.31, p = 8.3 x 10e-4) T2D and normal glucose tolerant (NGT) individuals.
IGF2BP2	Rs1470579	T2D risk increased strongly when risk alleles, including the previously discovered T2D-associated TCF7L2 rs7903146 SNP, were combined (8.68-fold for the 14% of French individuals carrying 18 to 30 risk alleles with an allelic OR of 1.24) Neither rs4402960 or rs1470579 were found to be associated with type-2 diabetes in a study of 3,000 French Caucasians.
IGF2BP2	Rs1470579	This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).Note: rs1470579 is fairly tightly linked (r2=0.87) with another IGF2BP2 gene SNP also associated with type-2 diabetes, rs4402960.
IGF2BP2	Rs4402960	rs4402960 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.23 (CI: 1.11-1.36, p = 8.1 x 10e-5) associated with type-2 diabetes significantly associated with type-2 diabetes p = 0.00009; in 1,630 Japanese subjects and in 1,064 controls 1,638 type-2 diabetes patients and 1,858 controls rs4402960 borderline (OR 1.10, 95% CI: 0.99-1.22).
IGF2BP2	Rs4402960	Neither rs4402960 or rs1470579 were found to be associated with type-2 diabetes in a study of 3,000 French Caucasians.
IGF2BP2	Rs4402960	This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).Note: rs4402960 is fairly tightly linked (r<sup>2</sup>=0.87) with another IGF2BP2 gene SNP also associated with type-2 diabetes, rs1470579 Called into question by table 1 of.
IKZF1	Rs4132601	/ 23andMe blog Acute lymphoblastic leukemia each rs4132601 (G) 1.69x odds of ALL each rs7089424 (G) 1.65x odds of ALL each rs2239633 (G) 1.34x odds of ALLA meta-analysis published in 2014 based on a total of 15 case-control studies with 8333 cases and 36036 controls concluded that rs4132601 was associated with increased ALL risk in Caucasians and Hispanics but not among Asians.
IL10	Rs3024496	Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations.Dust mite exposure significantly modified the relation between 3 SNPs in IL10 ( rs1800896, rs3024492, and rs3024496 ).
IL10	Rs3024492	Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations.Dust mite exposure significantly modified the relation between 3 SNPs in IL10 ( rs1800896, rs3024492, and rs3024496 ).
IL10	Rs3024490	The authors explain that in Ghana, pro-inflammatory alleles rescue their carriers of excess mortality in adverse environmental conditions such as drinking from boreholes, and thus minor alleles occur more frequently in African populations, but in an affluent environment, the same pro-inflammatory response leads to increased mortality, and minor alleles occur much less frequently (i.e.
IL10	Rs1800896	Homozygosity for the minor allele of each of the 3 SNPs was associated with increased risk of occurrence ( approximately 3-fold to 39-fold increase).A study of 258 prostate cancer cases concluded that the rs1800896 (A) allele, known to result in lower levels of this anti-inflammatory cytokine, was positively associated with risk (AG vs. GG, odds ratio of 1.69, CI: 1.10-2.60; AA vs. GG, OR of 1.81, CI: 1.11-2.96).
IL10	Rs3024490	This combination of risk alleles led to lower IL-10 expression and higher TNF gene expression, resulting in a pro-inflammatory response.
IL10	Rs1554286	Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcets disease.
IL10	Rs1554286	Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcets disease susceptibility loci.
IL10	Rs1518111	Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcets disease.
IL10	Rs1800871	Association of the interleukin-10 1082G/A, 819C/T and 3575T/A gene polymorphisms with systemic sclerosis: a meta-analysis.
IL12B	Rs3212227	rs568408 GA/AA and rs3212227 AC/CC variant genotypes were associated with a significantly increased risk of cervical cancer adjusted odds ratio, 1.43; 95% confidence interval (CI), 1.06-1.93; and adjusted odds ratio, 1.30; 95% CI, 0.97-1.75, respectively.
IL12B	Rs2288831	Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina.
IL12B	Rs3212227	Subjects carrying variant genotypes of both loci had a 1.82-fold (95% CI, 1.28-2.57) increased risk of cervical cancer.
IL12B	Rs3213094	/ 23andMe blog psoriasis Chinese rs3213094 (C) 1.28x risk.
IL13	Rs20541	rs2569190 (T;T) and rs2569191 (C;C) genotypes associated with lower IgE/ 23andMe blog psoriasis Europeans rs20541 (G) 1.27x risk.
IL13	Rs1800925	Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.
IL1B	Rs1143623	Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.
IL1B	Rs1143627	Interaction between functional polymorphic variants in cytokine genes, established risk factors and susceptibility to basal cell carcinoma of skin.
IL1B	Rs1143634	This association was even more pronounced in patients with higher levels of obesity or inflammatory markers. rs1143634 increases susceptibility to Alopecia Areata 2.67 times for heterozygotes (CT) and 1.13 times for homozygotes (TT) rs1143634 increases susceptibility to Alzheimers disease 2.33 times for homozygotes (TT) rs1143634 increases susceptibility to Cervical lesions, low-grade squamous intraepithelial lesions 4.29 times for heterozygotes (CT) and 3.57 times for homozygotes (TT) rs1143634 increases susceptibility to Duodenal ulcer 1.14 times for carriers of the T allele rs1143634 increases susceptibility to Inflammatory bowel disease 7.32 times for carriers of the T allele rs1143634 increases susceptibility to Joint destruction in Rheumatoid Arthritis 1.70 times for carriers of the T allele rs1143634 increases susceptibility to Myasthenia gravis 1.29 times for heterozygotes (CT) and 4.63 times for homozygotes (TT) rs1143634 increases susceptibility to Nephropathy in Type I Diabetes 2.03 times for heterozygotes (CT) and 5.01 times for homozygotes (TT) rs1143634 increases susceptibility to Peptic ulcer disease 1.06 times for carriers of the T allele rs1143634 increases susceptibility to Periodontitis 2.85 times for heterozygotes (CT) and 4.89 times for homozygotes (TT) rs1143634 increases susceptibility to Periodontitis 3.33 times for carriers of the T allele rs1143634 increases susceptibility to Survival in pancreatic cancer for carriers of the T allele rs1143634 increases susceptibility to Ulcerative colitis 1.89 times for heterozygotes (CT) and 1.59 times for homozygotes (TT).
IL1B	Rs16944	Additionally, this genotype is associated with impaired ability to achieve remission in a study of 256 Caucasian individuals with depression (odds ratio = 1.74; 95% confidence interval 1.2-4.3).The rs16944 A allele increases susceptibility to Osteoarthritis, with 1.80 times for heterozygotes (AG) and 2.90 times for homozygotes (AA) Gray matter deficits in bipolar disorder rs16944 (T;T).
IL1B	Rs3087258	Epistasis between IL1A, IL1B, TNF, HTR2A, 5-HTTLPR and TPH2 variations does not impact alcohol dependence disorder features.
IL1RN	Rs9005	Radiographic severity of knee osteoarthritis is conditional on Interleukin 1 Receptor Antagonist gene variations.
IL1RN	Rs423904	rs423904 increases susceptibility to Ulcerative colitis 2.60 times for carriers of the T allele.
IL1RN	Rs315952	Radiographic severity of knee osteoarthritis is conditional on Interleukin 1 Receptor Antagonist gene variations.
IL21	Rs907715	Confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
IL23R	Rs10489629	rs10489629 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis.
IL23R	Rs10889677	The odds ratio is 1.3 (p=1.3x10e-6).PMID 17952073, PMID 18037607In a study of 216 North American patients with Graves disease, the C allele of rs10889677 was 2.03x overrepresented (p=1.3x10<sup>&#226;&#8364;&#8220;4</sup>), and the homozygous rs10889677 (C;C) genotype was also overrepresented (2.36x; p=1.4x10<sup>-4</sup>) in Graves ophthalmopathy patients.A genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry, concluded that this SNP and several others were associated with altered risk for the disease.
IL23R	Rs11209032	The odds ratio is 1.3 (p=7.5x10e-9).PMID 17952073, PMID 18037607 rs11209032 and rs1495965 no significant association with systemic sclerosis.
IL23R	Rs11465770	Found that T allele may be protective against Crohns disease in Chinese.
IL23R	Rs11465804	rs11465804 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis.
IL23R	Rs11805303	rs11805303 has been reported in a large study to be associated with Crohns disease.The risk allele (oriented to the dbSNP entry) is (T). the odds ratio associated with heterozygotes is 1.39 (CI 1.22-1.58), and for homozygotes, 1.86 (CI 1.54-2.24).
IL23R	Rs1343151	A;A homozygous individuals showed a strongly reduced risk of Crohns Disease compared those who were G;G homozygous.
IL23R	Rs1495965	Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcets disease.
IL23R	Rs7517847	An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
IL23R	Rs7530511	IL23R gene SNP, part of a haplotype with rs11209026 associated with psoriasis.In a study of 216 North American patients with Graves disease, the homozygous rs10889677 (T;T) genotype was significantly associated with Graves disease but not specifically with Graves ophthalmopathy; the odds ratio was 9.4 (p=0.02).
IL23R	Rs7539625	Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population.
IL2RA	Rs706778	rs706778 is mentioned as being strongly associated with type-1 diabetes in.
IL2RA	Rs3118470	Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
IL2RB	Rs743777	A novel galectin-1 and interleukin 2 receptor beta haplotype is associated with autoimmune myasthenia gravis.
IL6	Rs7802308	rs7802308 coronary artery disease 190 affected Asian Indian sibling pairs.
IL6	Rs7802307	rs7802307 coronary artery disease 190 affected Asian Indian sibling pairs.
IL6	Rs2069861	IL6 and CRP haplotypes are associated with COPD risk and systemic inflammation: a case-control study.
IL6	Rs2069837	The synergy factor (SF) was 1.63 (CI: 1.10-2.41, p = 0.01), controlling for age, gender and ApoE4 genotype.
IL6	Rs2069832	C-reactive protein, interleukin-6, and prostate cancer risk in men aged 65 years and older.
IL6	Rs2069832	Adipokine genes and prostate cancer risk.
IL6	Rs2069830	Stroke rs2069830 (T) (frequency = 5%) protective among non-smokers (OR = 0.30, 95% CI=0.11-.082, p=0.02), but not among smokers (OR = 1.63, 95% CI=0.48-5.58, p=0.43).
IL6	Rs1800797	Carriage of the G-G diplotype indicated an increased risk of both symmetrical DIP OA (OR 1.52 95% CI 1.01 to 2.28) and symptomatic DIP OA (OR 3.67 95% CI 1.50 to 9.00) rs1800797 coronary artery disease 190 affected Asian Indian sibling pairs.
IL6	Rs1800796	Carriage of the G-G diplotype indicated an increased risk of both symmetrical DIP OA (OR 1.52 95% CI 1.01 to 2.28) and symptomatic DIP OA (OR 3.67 95% CI 1.50 to 9.00) rs1800796 coronary artery disease 190 affected Asian Indian sibling pairs.
IL6	Rs1800795	Carriage of the G-G diplotype indicated an increased risk of both symmetrical DIP OA (OR 1.52 95% CI 1.01 to 2.28) and symptomatic DIP OA (OR 3.67 95% CI 1.50 to 9.00) Suggests that healthy elderly individuals may have a proinflammatory profile playing as a downregulating factor for inducible Hsp70, particularly if -174 G/C-negative and that therefore, a nutraceutical intervention (fermented papaya preparation 9 g/day) might be of benefit.
IL6	Rs1524107	Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.
IL6	Rs13447446	rs13447446 may be a misassigned reference for the IL6 gene rs1800795.
IL6	Rs13306435	A haplotype of the IL6 gene appears to be overrepresented in sciatica patients.PMID 15733644, PMID 18321738.
IL6	Rs2066992	rs2066992 coronary artery disease 190 affected Asian Indian sibling pairs.
IL6R	Rs6694817	Named in as a SNP potentially used in the calculation of a cardiovascular genetic risk score.
IL6R	Rs12730935	Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
IL6R	Rs2229238	Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.
IL6R	Rs4129267	A 2011 study of 302 Breast cancer survivors, and follow-up data from 236 of them, Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway examined The associations between fatigue and SNPs in inflammation-related genes; IL1β ( rs16944 ), IL6 ( rs1800795 ), IL6receptor ( rs4129267, rs4845617, rs2228145 ), CRP ( rs2794521, rs3091244 )  (Abstract).
IL6R	Rs4537545	Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Womens Genome Health Study.
IL6R	Rs4845617	Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.
IL6R	Rs4845617	Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway.
IL6R	Rs6684439	A study of 219 female melanoma patients and an equal number of controls concluded that 4 linked SNPs within the IL6R gene were associated with increased melanoma risk, but only when heterozygous.
IL6R	Rs8192284	The 4 linked SNPs from identified in this study are: rs6684439, rs4845618, rs4845622, and rs8192284.linked to diabetes by multiple myeloma rs1801278 C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1 rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0) rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0) rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0).
IMPDH1	Rs72624951	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
INSR	Rs1864010	The INSR A-603G promoter rs1864010 SNP, which is located within a known Sp1-binding site, was associated with the risk of colorectal cancer, with carriers of the G allele having a decreased risk (odds ratios 0.71, CI: 0.54-0.93).
INSR	Rs2860174	A combined study totaling 1,000+ patients with migraine susceptibility concluded that even larger numbers of individuals are required to exclude or confirm the most likely small effect of rs2860174 on migraine susceptibility.
IRAK3	Rs1882200	Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.
IRF1	Rs2070729	Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations.
IRF5	Rs10954213	Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
IRF5	Rs10954213	Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
IRF5	Rs10954213	Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.
IRF5	Rs10954213	Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
IRF5	Rs10954213	Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
IRF5	Rs10954213	Interferon alpha in systemic lupus erythematosus.
IRF5	Rs10954213	A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.
IRF5	Rs2004640	Association with multiple sclerosis (along with several other SNPs) was observed after combining data from Swedish and Spanish case/control studies and a Finnish trio study.
IRF5	Rs3807306	rs4728142, rs3807306 and a 5 bp insertion-deletion linked multiple sclerosis in three populations Associated with systemic lupus erythematosus (SLE) in African Americans.
IRS1	Rs1801123	Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
IRS1	Rs1801278	Carrying the variant allele of the IRS1 Gly972Arg rs1801278 SNP further decreased the risk among the INSR-603G allele carriers (OR 0.28, 95% CI 0.11-0.70) multiple myeloma rs1801278 C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1 rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0) rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0) rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0).
ITGA2B	Rs80277041	Glanzmanns thrombasthenia.
ITGA2B	Rs80002943	Glanzmanns thrombasthenia.
ITGA2B	Rs76811038	Glanzmanns thrombasthenia.
ITGA2B	Rs137852911	Glanzmanns thrombasthenia.
ITGA2B	Rs137852910	Glanzmanns thrombasthenia.
ITGA2B	Rs137852909	Glanzmanns thrombasthenia.
ITGA2B	Rs137852908	Glanzmanns thrombasthenia.
ITGA2B	Rs137852907	Glanzmanns thrombasthenia.
ITGA2B	Rs137852906	Glanzmanns thrombasthenia.
ITGB3	Rs5918	rs5918 is not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers, based on a multi-center study including ~10,000 patients from 34 studies.
ITPA	Rs1127354	ITPA gene variant protects against anemia induced by pegylated interferon-alpha and ribavirin therapy for Japanese patients with chronic hepatitis C. Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy.
ITPA	Rs1127354	Impact of inosine triphosphatase gene variants on the risk of anemia in HIV/hepatitis C virus-coinfected patients treated for chronic hepatitis C. Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes.
ITPA	Rs6139030	Hepatitis C Treatment Side Effects.
ITPR3	Rs2296336	Suggests this SNP does not play a direct role in type-1 diabetes, and was only seen in the previous study due to being in linkage disequilibrium with specific alleles of the HLA DQB1 gene.
ITPR3	Rs3748079	Individuals with risk genotypes of both rs3748079 and rs3095870, in the ITPR3 and NKX2.5 genes, respectively, have even high risk for SLE (odds ratio 5.77).This particular SNP also revealed associations with rheumatoid arthritis (RA) (p=0.0084 with odds ratio of 1.23, CI:1.05-1.43) and with Graves disease (GD) (p=0.00036 with odds ratio of 1.57, CI:1.22-2.02).Note that the orientation of this SNP as published is reversed compared to the dbSNP entry.
JAK2	Rs10815149	/ 23andMe blog rs10815149 (C) increased risk of myeloproliferative neoplasm due to stem cells over producing too many of one type of cell.
JAK2	Rs10974944	The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.
JAK2	Rs121912472	The (rare) rs121912472 (C) variant may be associated with certain myeloproliferative disorders.
JAK2	Rs12340895	23andMe recently replicated this association, though we see a smaller effect &#8212; in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease.
JAK2	Rs12343867	Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.
JAK2	Rs3780374	23andMe recently replicated this association, though we see a smaller effect &#8212; in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease.
JAK2	Rs3780374	N A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867 ) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version.The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.
JAK2	Rs3780378	Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile.
JAK2	Rs4495487	An A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867 ) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version.The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.
JAK2	Rs77375493	The wild-type (normal) allele is rs77375493 (G), and the (very rare) variant allele is rs77375493 (T).While the predictive medical consequences of having the variant in the absence of symptoms remain uncertain, this variant has been reported to be associated with several myeloproliferative disorders (basically, cancers of the blood), including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis, and it appears to be act in a dominant manner.
JUP	Rs113994176	A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
JUP	Rs113994177	Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
KCNA5	Rs45477792	This SNP, also known as P532L, affecting an amino acid in exon 1 of the KCNA5 potassium channel gene, may mediate the response to drugs such as quinidine.The risk allele is rs45477792 (T), and carriers receiving quinidine or propafenone for the treatment of cardiac arrhythmias may be resistant to the drug (and thus treatment).
KCNA5	Rs45438698	Note that this allele is rare; it was not observed in African-American or Asian populations, however it is reported to be present at a frequency of 1.1% among Caucasians.
KCNB1	Rs756529	News suggest KCNB1 may be involved in the development of LV hypertrophy in humans.
KCNE1	Rs1805128	/ 23andMe blog Influences QT interval.
KCNE1	Rs727957	/ 23andMe blog Influences QT interval.
KCNE1	Rs74315445	Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
KCNE1	Rs74315445	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
KCNE1	Rs74315445	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
KCNE1	Rs74315446	Compound mutations: a common cause of severe long-QT syndrome.
KCNH2	Rs1036145	The main suggestion of how these variants in KCNH2 might lead to these brain changes and risk for schizophrenia comes from previous findings that mutations in this gene screw up the efflux of K+ ions during the repolarization phase of an action potential.
KCNH2	Rs1137617	However, the rs1137617 (A) allele is a nonsense mutation, encoding a stop codon, and it is considered pathogenic for cardiac arrhythmia by a (single) source in ClinVar.
KCNH2	Rs121912512	Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
KCNH2	Rs121912515	Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
KCNJ1	Rs59172778	rs59172778, also known as c.1013T>C or p.Met338Thr, is a relatively rare variant in the KCNJ1 gene.The minor rs59172778 (G) allele was originally reported (in 1996) as a mutation leading to recessively inherited type 2 Bartter syndrome.
KCNJ1	Rs59172778	The (G) allele is rare, usually being found in just under 1% of allele counts, but Bartter syndrome appears to be even rarer.
KCNJ1	Rs59172778	Anecdotally, we (SNPedia) have also heard from an rs59172778 (G;G) individual who has no signs of Bartter syndrome.So while it remains possible that the rs59172778 (G) allele is a very weakly penetrant mutation associated with Bartter syndrome as originally reported, the preponderance of evidence is now indicating it is a benign polymorphism.
KCNJ11	Rs193929339	Relapsing diabetes can result from moderately activating mutations in KCNJ11.
KCNJ11	Rs80356616	KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
KCNJ11	Rs80356613	Relapsing diabetes can result from moderately activating mutations in KCNJ11.
KCNJ11	Rs193929336	KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
KCNJ11	Rs5215	The association between type-1 diabetes and rs5215 is mentioned as being replicated in. there is also a 90% correlation between rs5215 and rs5219.
KCNMA1	Rs762705295	Aka NM_001014797.2 (KCNMA1) :c.2038dup or (p.Tyr680Leufs) OMIM pathogenic variant.
KCNQ1	Rs12720459	rs12720459, known also as Ala341Val and formerly as Ala212Val and Ala246Val, is a SNP in the potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 gene.This SNP, specifically rs12720459 (T), represents one of the most common mutations within the KCNQ1 gene leading to LQT1, the most common form of Long QT syndrome.
KCNQ1	Rs104894252	Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
KCNQ1	Rs120074188	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
KCNQ1	Rs120074190	Aka c.1766G>A (p.Gly589Asp), G589DThis mutation in the KCNQ1 gene is considered one of four founder mutations among people from Finland associated with Long QT syndrome (LQTS).23andMe name: i5004485.
KCNQ1	Rs120074193	KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
KCNQ1	Rs120074194	Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
KCNQ1	Rs120074195	Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
KCNQ1	Rs12576239	/ 23andMe blog Influences QT interval.
KCNQ1	Rs12720459	LQT1 is one of the less severe forms of Long QT syndrome.
KCNQ4	Rs28937589	Deafness.
KCNQ4	Rs80358279	A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
KCNQ4	Rs80358276	Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
KCNQ4	Rs28937588	Deafness.
KCNQ4	Rs28939710	Deafness Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
KCNQ4	Rs80358271	Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
KDM5D	Rs2032623	Association of Y chromosome haplogroup I with HIV progression, and HAART outcome.
KDM5D	Rs2032634	Per site dna-forums.org/index.php?showtopic=5557&view=findpost&p=77261 (now defunct) rs2032634 (M73) was known to be wrong for most of the 23andMe v1 results.
KDR	Rs1531289	The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia.
KDR	Rs1870377	Pazopanib-induced hyperbilirubinemia is associated with Gilberts syndrome UGT1A1 polymorphism.
KDR	Rs2125489	Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.
KDR	Rs7691507	(VEGF in this article refers to KDR aka VEGFR.).
KEL	Rs8176038	Aka c.1790T>C, p.Leu597Pro or L597Pencodes the KEL7/KEL6 alleles (and thereby the Jsb/Jsa antigens, respectively) of the KEL blood group.
KEL	Rs8176059	Non-ABO Blood Groups.
KIF1A	Rs548204329	Aka c.31C>T, p. (Arg11Trp) Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegia; implies the minor allele is a dominant mutation.
KIF1B	Rs10492972	rs10492972 is a SNP in the KIF1B gene, which encodes a neuroprotein.A genome-wide association study of 2,679 patients with multiple sclerosis (and 3,000+ controls) concluded that the rs10492972 (C) allele is a risk allele for the disease, with an odds ratio of 1.35 (p = 2.5 x 10e-10).
KIF1B	Rs10492972	This is one of the few SNPs associated with multiple sclerosis that is not related to immune function.
KIF1B	Rs10492972	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
KIF1B	Rs10492972	Lack of support for association between the KIF1B rs10492972 C variant and multiple sclerosis.
KIF1B	Rs10492972	The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis.
KIF1B	Rs17401966	HBV-related hepatocellular carcinoma susceptibility gene KIF1B is not associated with development of chronic hepatitis B.
KIF5A	Rs113247976	Aka Pro986Leu~1.4x increased risk for ALS, also known as Lou Gehrigs disease, is associated with the minor allele of this SNP located in the 3 terminal area of the KIF5A gene.
KIT	Rs28933968	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
KITLG	Rs12821256	A molecular basis for classic blond hair color in Europeans: This article shows how changing just rs12821256 from (T) to (C) in a transgenic mouse leads to lighter hair color.
KITLG	Rs3782179	Testicular cancer risk) was increased 3x per copy of the major (T) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.29&#8211;4.13; OR = 3.07, CI = 2.29&#8211;4.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls.
KITLG	Rs3782179	Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene.
KITLG	Rs4590952	Located in the KIT ligand gene KITLG p53-binding response element (RE), rs4590952 has been linked to both testicular cancer and protection from sun damage.
KL	Rs2249358	The odds ratio is 2.6 (CI: 1.4-5.5) for carriers of a rs2249358 (G) allele, as in dbSNP orientation.
KL	Rs211239	The odds ratio is 1.7 (CI: 1.2-2.6) for carriers of a rs211239 (C) allele, as in dbSNP orientation.
KLF6	Rs10508266	rs10508266 and rs3750861 near KLF6 shows significant association with Lung cancer risk.
KRAS	Rs1137282	Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
KRAS	Rs17388587	KRAS variation and risk of endometriosis.
KRAS	Rs61764370	Contrary to the claims of a test being marketed, a large study (8,500+ patients and >10,000 controls) found no evidence for any association between rs61764370 and any form of ovarian cancer.This letter in the Lancet challenges the claims of an association with triple-negative breast cancer in.
KRAS	Rs727503110	Aka c.65A>G (p.Gln22Arg).
KRIT1	Rs267607204	KRIT1 gene, c.987C>A, p.Cys329Ter, C329X mutation rs267607204 (A) is considered a dominantly inherited pathogenic mutation for cerebral cavernous malformation.
KRIT1	Rs374303823	Aka c.1579G>A (p.Ala527Thr).
KRIT1	Rs886039402	Aka c.1267C>T (p.Arg423Ter).
KRT14	Rs60831116	(2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X).
LAMA2	Rs12193446	Risk of nearsightedness in people with European ancestry.
LAMB3	I5012672	Epidermolysis bullosa, junctional, Herlitz type rs80356682.
LAMB3	I5012669	Epidermolysis bullosa, junctional, Herlitz type rs80356680.
LAMB3	I5012671	Epidermolysis bullosa, junctional, Herlitz type rs80356681.
LDB3	Rs121908337	rs121908337, also known as c.617C>T, p.Thr206Ile and T206I, is a rare mutation in the LDB3 gene on chromosome 10.Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.See OMIM 605906.0006.
LDB3	Rs121908338	rs121908338, also known as c.349G>A, p.Asp117Asn and D117N, is a variant in the LDB3 gene on chromosome 10.Originally published as being inherited as an autosomal dominant, reportedly leading to a form of left ventricular noncompaction, it is now considered to be a benign polymorphism.See OMIM 605906.0007.
LDB3	Rs45487699	rs45487699, also known as c.566C>T, p.Ser189Leu and S189L, is a rare mutation in the LDB3 gene on chromosome 10.Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.See OMIM 605906.0005.
LDLRAP1	Rs755104973	Aka NM_015627.2 (LDLRAP1) :c.89-1G>COMIM pathogenic variant.
LEP	Rs17151919	Genes in glucose metabolism and association with spina bifida.
LEP	Rs2071045	Genetic polymorphisms in obesity-related genes and endometrial cancer risk.
LEP	Rs2167270	Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease susceptibility and cardiovascular disease in patients with rheumatoid arthritis.
LEPR	Rs8179183	rs8179183 is a SNP in the leptin receptor LEPR gene.In a study of 101 mostly Caucasian patients prescribed the atypical antipsychotic risperidone, carriers of a rs8179183 (G) allele were less likely to gain significant weight compared to rs8179183 (C;C) carriers, as assessed by physiogenomic analysis of corresponding weight profiles.
LEPR	Rs1137100	It has been reported to affect glucose tolerance and insulin response, and it is also one of five SNPs reported to be useful in a SNP set defining the risk of dying from prostate cancer among patients with the disease; see gs242 and gs243.
LEPR	Rs1137101	Obesity Q223R rs1137101 may be associated with obesity in women with a psychotic disorder treated with atypical antipsychotic drugs Gln223Arg polymorphism could be considered a disease susceptibility modulating factor both in ischemic heart disease or dilated cardiomyopathy patients.
LEPR	Rs6700896	/ 23andMe blog rs6700896 (T) -14.8% lower CRP and associated with increased weight and body mass index.
LHCGR	Rs2293275	Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.
LHCGR	Rs13405728	Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis.
LHCGR	Rs121912518	Aka c.1733A>G (p.Asp578Gly or D578G) The rs121912518 (G) mutation is considered to be a dominantly inherited mutation leading to familial male precocious puberty, and in the US (but not in Europe), it is the most common such mutation.A 2019 article about a male inheriting such a mutation is here.
LHCGR	Rs121912532	Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.
LIG4	Rs10131	Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer / PMC2851649.
LIPC	Rs1800588	Genetic polymorphisms in fatty acid metabolism genes and colorectal cancer.
LIPC	Rs261332	rs261332 increases susceptibility to Elevated HDL-Cholesterol for carriers of the A allele A allele is associated with 1.41mg/dl increase in HDL cholesterol (good cholesterol).
LIPC	Rs261342	Sex-specific association of rs261342, rs12593008 and rs8028759 high-density lipoprotein cholesterol Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
LIPC	Rs3825776	rs3825776, a SNP in the region of the LIPC gene on chromosome 15, has been associated with the sporadic form of ALS (Lou Gehrigs disease) in a study of 1000+ European patients.
LIPC	Rs3829462	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
LIPC	Rs8023503	Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations.
LIPT1	Rs137973334	rs137973334, also known as c.292C>G, p.Arg98Gly and R98G, represents a rare mutation in the LIPT1 gene on chromosome 2.Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.
LIPT1	Rs786205156	rs786205156, also known as c.535A>G, p.Thr179Ala and T179A, represents a rare mutation in the LIPT1 gene on chromosome 2.Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.
LMNA	Rs587777892	The nucleotide change predicts an amino acid substitution of methionine to isoleucine at amino acid residue 348 (M3481 or Met348Ile), and it is considered in the article cited below to be a causative (and autosomal dominant) change leading to Charcot-Marie-Tooth disease.
LMNA	Rs267607577	Aka c.1296_1299dupGCAC and also c.1296_1299delGCACGCAC; both are annotated in ClinVar as pathogenic or likely pathogenic for cardiomyopathy.
LOXL1	Rs1078967	Association with exfoliation glaucoma; possible genoset partner with rs2165241.
LOXL1	Rs201011613	The minor allele is reported to have been seen (at least so far) exclusively in the Japanese population.A large study published in 2017 involving deep resequencing of the entire LOXL1 and CACNA1A genes in 5,570 patients with exfoliation syndrome (XFS) plus 6,279 controls concluded that the rare rs201011613 (T) allele provided strong protection against the development of XFS (OR ~25, p = 2.9 × 10e-14).
LOXL1	Rs2165241	Confirmed as risk for pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations of German and Italian descent. rs2165241 increases susceptibility to Exfoliation glaucoma 3.62 times for carriers of the T allele rs2165241 increases susceptibility to Glaucoma 1.96 times for carriers of the T allele rs2165241 increases susceptibility to Primary open-angle glaucoma 1.04 times for carriers of the T allele.
LOXL1	Rs3825942	{PMID Auto|PMID=22065931|Title=Decreased total antioxidants status in the plasma of patients with pseudoexfoliation glaucoma.
LOXL1	Rs893817	Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.
LPA	Rs55730499	Reported to be associated with longevity.
LPA	Rs7770628	Lipoprotein A (LPA) protein levels.
LPL	Rs285	Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.
LPL	Rs326	The (A) allele of rs326 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans.
LPP	Rs9860547	Allergies.
LPP	Rs4686484	The LPP protein is involved in cell motility and cell&#8211;cell adhesion, which is crucial to maintaining the barrier integrity of epithelial monolayers such as those in the small intestine.A study of several populations eventually settled on rs4686484 as the SNP most likely to be the functional variant at the heart of the haplotypes associated with altered risk for celiac disease.
LPP	Rs9851967	Celiac Disease.
LPP	Rs13076312	Generalized Vitiligo.
LPP	Rs1464510	Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
LRP4	Rs2306033	rs2306033 increases susceptibility to Osteoporotic fractures for carriers of the G allele.
LRP5	Rs28939709	Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
LRP5	Rs3736228	The presence of both risk alleles increased the risk of osteoporotic fractures (OR 1.3, 1.08-1.63, p=0.006) and this effect was independent of bone mineral density.A later study (2009) also found an association between rs3736228 and hip BMD; subjects with rs3736228 (T;T) genotypes had 8.4% higher total-hip BMD compared to other genotypes (p = 0.009) at baseline in a study of 249 osteoporotic Caucasian men.
LRP5	Rs491347	Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites.
LRP5	Rs4988300	Linked to obesity.
LRP5	Rs4988321	LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
LRPPRC	I5012749	Leigh syndrome, French Canadian Type (LSFC) rs119466000.
LRRK2	Rs33995883	In 2018, a study of 2,000 patients with Crohns disease found somewhat increased (~2x) risk for the disorder to be associated with rs33995883 (G).
LRRK2	Rs7308720	Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.
LRRK2	Rs35870237	C.6059T>C (p.Ile2020Thr or I2020T) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).
LRRK2	Rs35801418	C.5096A>G (p.Tyr1699Cys or Y1699C) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disorder (type 8).
LRRK2	Rs34778348	This SNP was estimated to account for 4% of all Parkinson cases in this population./ 23andMe blog Parkinsons disease.
LRRK2	Rs33939927	The three variants are also known as c.4321C>A, p.Arg1441Ser; c.4321C>T (p.Arg1441Cys). and c.4321C>G (p.Arg1441Gly).Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).
LRRK2	Rs34637584	BMC in LRRK2 is not fully penetrant in familial Parkinsons Disease and commentarygs248 is relevant.
LRRK2	Rs33949390	Also known as R1628P, rs33949390 is a SNP in the LRRK2 gene.A study of Chinese patients with Parkinsons disease concluded that in this population, after adjustments were made for age, age of onset, and gender, rs33949390 (C) carriers were 3.3x more likely to develop the disease than noncarriers (CI: 1.4- 7.9, p = 0.007).
LRRK2	Rs281865054	C.5620G>T (p.Glu1874Ter) 23andMe calls this i5045553.
LRRK2	Rs34778348	In perfect contrast to another SNP also within the LRRK2 gene, rs34637584, this SNP, rs34778348, is not found in Caucasian populations but is found in Asian populations.A case-control study of 989 Chinese subjects concluded that the odds ratio for Parkinsons disease was 2.1 for rs34778348 (A) carriers (CI: 1.1-3.9, p = 0.014).
LTA	Rs746868	Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia.
LTA	Rs2239704	Five SNPs in two cytokine genes, TNF and LTA, were associated with a 1.31x increase in Non-Hodgkin Lymphoma (OR, 1.31; 95% CI, 1.06-1.63; P = 0.01) and with a 1.64x increase in the subtype known as diffuse large B cell lymphoma (OR, 1.64; 95% CI, 1.23-2.19; P = 0.0007).
LTA	Rs928815	Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia.
LTA	Rs2229094	827 males and 709 females, 606 subjects without cancer and 930 subjects with various cancers rs2229094 (A;A) (T495C, C13R) associated with gastric cancer (TC + CC: TT, adjusted OR = 1.68, 95% CI = 1.06 - 2.65) in males but not in females.
LTA	Rs2844482	Extended LTA, TNF, LST1 and HLA gene haplotypes and their association with rubella vaccine-induced immunity.
LTA	Rs1800630	rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant.In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630 (A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p (corr) = 0.009).
LTA	Rs1041981	827 males and 709 females, 606 subjects without cancer and 930 subjects with various cancers rs1041981 (A;C) (C804A, T60N) associated with lung cancer (CA + AA: CC, adjusted OR = 0.60, 95% CI = 0.37 - 0.97), in males but not in females.
LTA	Rs1800630	This allele was also found to be significantly increased in the SLE group with Raynauds phenomenon compared to SLE without Raynauds phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p (corr) = 0.048).Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves disease cases, concluded that rs1800630 (A) carriers were associated with the disease.
LTA	Rs1799964	Associated with at least one mortality outcome in a study of ~10,000 individuals.Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves disease cases, concluded that rs1799964 (C) carriers were associated with the disease.
LZTS1	Rs28937897	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
MAD1L1	Rs28939694	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
MAGEL2	Rs773586710	Aka NM_019066.4 (MAGEL2) :c.1996delC or (p.Gln666Serfs) OMIM pathogenic variant.
MAOA	Rs2072743	A haplotype consisting of rs3027400 (G) and rs2072743 (C) associated with increased incidence of migraine without aura among a sample of 528 migraine patients (308 without aura, 220 with aura) and 528 sex-matched migraine-free controls.
MAOA	Rs3027400	Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.
MAOA	Rs3027407	Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
MAOA	Rs6609257	Mentioned as potentially affecting white matter volume, sample size tiny Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.
MAOA	Rs72554632	Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation resulting from MAOA deficiency due to the premature stop codon detected by rs72554632.dbSNP reports rs72554632 (C/T; CAT->TAG; QLN->STOP (AMBER) ) as probably pathogenic, NP_000231.1 Gln296X.
MAPT	Rs1052553	Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
MAPT	Rs143624519	Instead, it acts as a risk modifier and increases susceptibility to several neurodegenerative conditions, including Alzheimers disease, frontotemporal dementia, and dementia with Lewy bodies.
MAPT	Rs17651507	This SNP was identified as a core SNP helping to define one (of nine total) runs of homozygosity (ROH) potentially associated with increased risk for schizophrenia.
MAPT	Rs17651507	The overall odds ratio for schizophrenia associated with inheriting 1, 2, or 3 of these 9 ROHs was calculated to be 3.3, 5.4, or 24, respectively, with 95% confidence intervals of (1.9-5.7), (3.7-16.1), and (6.9-83.9), respectively.This particular SNP, rs17651507, was deemed to be the core SNP of a region on chromosome 17 with 211 SNPs spanning 1453KB from 17:141169023 to 17:42622984 (build 35).
MAPT	Rs1800547	Significantly associated with parkinsons disease.
MAPT	Rs3785883	Genetic susceptibility in Parkinsons disease.
MAPT	Rs63750424	Aka c.1216C>T (p.Arg406Trp or R406W) The R406W mutation in the MAPT gene, rs63750424 (T), is considered to be inherited in a dominant manner and to lead to frontotemporal dementia, in many ways akin to some forms of Alzheimers disease.
MAPT	Rs8070723	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
MAT1A	Rs2993763	rs2993763 is a SNP in the MAT1A gene on chromosome 10.
MAX	Rs387906650	Aka c.223C>T (p.Arg75Ter or R75X) ClinVar and agree that this mutation is predisposing for a hereditary cancer (paraganglioma-pheochromocytoma) syndrome.
MAX	Rs7158173	Anthropometric trait being waist circumference.
MBL2	Rs1800451	Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
MBL2	Rs1800451	DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
MC1R	Rs2228479	rs2228479, known as Val92Met or V92M, is one of several SNPs in the MC1R gene commonly associated with red (or blond) hair and poor tanning, but note its high presence in one Asian population PMID 7581459, PMID 16463023The risk allele is rs2228479 (A), compared with the wild-type rs2228479 (G) allele.
MC1R	Rs34474212	Possibly redheads|red hair related.
MC1R	Rs1805008	Blog about designing melanocortin analogs specific to these genotypes.See also OMIM 155555.0005MelanomaParkinsons disease.
MC1R	Rs1805006	Allelic odds ratio for pale skin (P-value) =5.19 (<1.0e-5) MC1R D84E rs1805006 also OMIM 155555.0003.
MC1R	Rs1805005	rs1805005, known as Val60Leu or V60L, is a SNP in the MC1R gene associated with light blond hair color in one study.
MC1R	Rs11547464	This missense mutation influences red hair color and has been observed in the Spanish maternal ancestry of User:Corpas son.
MC1R	Rs1805007	Blog entry about designing melanocortin analogs specific to these genotypes.See also OMIM 155555.0004Freckling.
MC2R	Rs1893220	rs1893220 and rs2186944 efficacy of ACTH therapy on infantile spasms.
MC2R	Rs2186944	rs1893220 and rs2186944 efficacy of ACTH therapy on infantile spasms.
MC2R	Rs28926173	Reported to be associated with longevity.
MC4R	Rs10871777	See rs17782313 for details.Measures of Obesity.
MC4R	Rs12970134	FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
MC4R	Rs13447324	It is also discussed in OMIM 1555541.0003, apparently as a dominantly inherited mutation.
MC4R	Rs17782313	rs17782313 (C) more snacking, however rs1421085 (C) did not influence eating behavior obesity and type-2 diabetes rs1121980 rs7498665 rs4752856 rs17782313 rs2815752 rs10938397.
MC4R	Rs52820871	Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.
MC4R	Rs52820871	A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.
MCM6	Rs4988235	Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.
MCM6	Rs4988234	Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.It is however a typo: &#8220;There was a typographical error in the rs number in the Abstract and Introduction.
MCM6	Rs182549	Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
MCM6	Rs145946881	PMID 17159977, PMID 23029545.
MCM6	Rs41380347	Arabic populations in Africa that still maintain a nomadic way of life also have more -13,915 G variants and fewer sub-Saharan L-type mitochondrial DNA haplogroups; this observation matches archaeological and historical records suggesting that the migration of Arabic pastoralists was accompanied by gradual sedentarization that allowed for admixture with the local African population.
MCM8	Rs16991615	This also meant that each rs16991615 (G) allele yielded an odds ratio of 1.85 (CI: 1.51&#8211;2.2, p = 1.45 x 10e-9) of early menopause, defined as occurring before the age of 46.Overall, women homozygous for the early alleles at all 4 SNPs found in this study were ~4 times more likely to undergo menopause early compared to women who had a total of 3 or less risk alleles.
MCOLN1	I4000425	Mucolipidosis IV rs104886461.
MCOLN1	Rs104886461	This SNP represents the most common mutation in Ashkenazi Jews leading to Mucolipidosis type IV, an autosomal recessive neurodegenerative lysosomal storage disorder.
MDM2	Rs117039649	A 2011 study comparing MDM2 promoter status among different cohorts of ovarian cancer (n = 1993) and breast cancer (n = 1973) patients concluded that rs117039649 (C) carriers were at reduced risk for both ovarian (odds ratio 0.74, CI: 0.58-0.94) and breast (odds ratio 0.79, CI: 0.62-1.00) cancer compared to SNP309G carriers (lacking SNP285).
MDM2	Rs937283	Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.
MDM4	Rs1380576	Modifying effect of MDM4 variants on risk of HPV16-associated squamous cell carcinoma of oropharynx.
MDM4	Rs4245739	For individuals with the P53 Arg/Arg genotype, the association was even stronger (p = 5.3e-12) with an odds ratio of 0.16 (95% CI: 0.08&#8211;0.27), suggesting a possible additive effect of MDM4 and P53 on breast cancer susceptibility.Additionally, smaller scale studies have reported association of rs4245739 with esophageal squamous cell carcinoma and ovarian cancer severity and progression.
MECP2	Rs1734792	Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
MEFV	Rs121907890	rs121907890, also known as c.2074_2076delATA, is a SNP in the MEFV gene.The symptoms of familial Mediterranean fever are caused by the persons own inflammatory response; it is not an infectious disease.
MEFV	Rs11466023	The risk allele is given as (A) by 23andMe, however in dbSNP orientation, the risk allele is (T).The symptoms of familial Mediterranean fever are caused by the persons own inflammatory response; it is not an infectious disease.
MEFV	Rs224204	rs224204 was associated with juvenile idiopathic arthritis based on a study of 950 Caucasian patients.
MEFV	Rs104895081	Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
MEFV	Rs28940580	The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.
MEFV	Rs61752717	The minor (G) allele is considered pathogenic by numerous sources including ClinVar for Familial Mediterranean Fever (FMF) when inherited in two copies or as a compound heterozygote. rs61752717 (G;G) individuals tend to have an earlier age of onset and higher frequencies of arthritis and arthralgia than persons carrying other pathogenic FMF variants.A significant association has lalso been identified between rs61752717 (G) and the development of amyloidosis, especially in those who are homozygous for this pathogenic variant.,.
MEFV	Rs104895097	The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.
MEFV	Rs28940579	The risk allele is given as (G) by 23andMe, however in dbSNP orientation, the risk allele is (C).The symptoms of familial Mediterranean fever are caused by the persons own inflammatory response; it is not an infectious disease.
MEFV	Rs104895094	Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
MEFV	I4000410	Familial Mediterranean Fever rs104895097.
MEFV	Rs104895093	rs104895093, also known as c.2076_2078delAAT, is a SNP in the MEFV gene.The symptoms of familial Mediterranean fever are caused by the persons own inflammatory response; it is not an infectious disease.
MEFV	Rs104895085	The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.
MEFV	Rs104895079	Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
MEFV	I4000409	Familial Mediterranean Fever rs61732874.
MEFV	I4000407	Familial Mediterranean Fever, autosomal recessive (carrier). note causation not provensee rs104895094 for further information.
MEFV	I4000406	Familial Mediterranean Fever rs61752717.
MEFV	I4000404	rs104895085 Familial Mediterranean fever.
MEFV	Rs104895094	The risk allele is given as (C) by 23andMe, however in dbSNP orientation, the risk allele is (G).The symptoms of familial Mediterranean fever are caused by the persons own inflammatory response; it is not an infectious disease.
MEN1	Rs28931612	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
MET	Rs1858830	Further evidence for the role of MET in autism susceptibility.
MET	Rs2237717	According to the authors, this is the first study to suggest that genetic factors can affect performance of facial emotion perception.==Association with chronic rhinosinusitis==The MET gene has been implicated in nasal polyp development, and Castano et al showed that the minor allele at rs2237717 is associated with chronic rhinosinusitis in patients with nasal polyps (genotypic P nominal = 0.09, empirical P = 0.04, OR = 1.4, CI = 1.0-1.9).
MET	Rs2237717	Study findings apply to patients with nasal polyps and severe CRS unresponsive to surgery.
MET	Rs38845	rs38845 is associated with autism (p < 0.004) in a study of 325 multiplex International Molecular Genetic Study of Autism Consortium (IMGSAC) families and 10 trios.
MET	Rs38857	The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population.
MFN2	Rs864622480	Aka c.720C>G (p.Phe240Leu) and also c.720C>A (p.Phe240Leu). both are considered pathogenic in ClinVar for Charcot-Marie-Tooth disease, type 223andMe name for c.720C>A: i723120.
MLH1	Rs1800734	Colorectal cancer (-93G>A, rs1800734 ) 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR) : AA vs GG = 3.30, 95% CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518, p = 0.05, proximal vs distal CRC).
MLH1	Rs193922370	Founding mutations and Alu-mediated recombination in hereditary colon cancer.
MLLT10	Rs11012732	rs11012732 is a SNP in the MLLT10 gene on ch 10p12.31.A study of ~1,600 patients with meningioma, all of European ancestry, concluded that increased risk for the disease was associated with rs11012732 (G) alleles.
MLLT10	Rs11012732	A nearby SNP, rs12770228, was also linked to meningioma risk.
MMACHC	Rs751828470	Aka NM_181697.2 (PRDX1) :c.515-1G>TOMIM pathogenic variant.
MMP1	Rs996999	Major alleles associated with increased in risk of early-onset lung cancer modified by smoking.
MMP1	Rs1938901	Major alleles associated with increased in risk of early-onset lung cancer modified by smoking.
MMP1	Rs996999	635 lung cancer cases with onset of disease below 51 years of age and 1,300 controls.
MMP1	Rs1144393	Association of genetic variants with chronic kidney disease in Japanese individuals.
MMP1	Rs1938901	635 lung cancer cases with onset of disease below 51 years of age and 1,300 controls.
MMP2	Rs1030868	rs1030868, rs2241145, rs2287074, rs2287076, rs7201 showed a significant association with small vessel infarcts (p < 0.05) and rs7201 :g.C was identified as an independent risk factor by multivariable logistic regression analysis.
MMP2	Rs2241145	Association of the MMP-2 gene with the development of lacunar stroke.
MMP2	Rs2241145	Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke.
MMP2	Rs2285053	rs2285053, also known as -735C>T, represents a variant in the promoter of the MMP2 gene on chromosome 16.A study of ~1000 Han Chinese patients with lumbar disc disease concluded that rs2285053 (T) carriers were at lower risk for the disorder.
MMP2	Rs2287074	rs1030868, rs2241145, rs2287074, rs2287076, rs7201 showed a significant association with small vessel infarcts (p < 0.05) and rs7201 :g.C was identified as an independent risk factor by multivariable logistic regression analysis.
MMP2	Rs2287076	rs1030868, rs2241145, rs2287074, rs2287076, rs7201 showed a significant association with small vessel infarcts (p < 0.05) and rs7201 :g.C was identified as an independent risk factor by multivariable logistic regression analysis.
MMP2	Rs243847	Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.
MMP2	Rs7201	rs1030868, rs2241145, rs2287074, rs2287076, rs7201 showed a significant association with small vessel infarcts (p < 0.05) and rs7201 :g.C was identified as an independent risk factor by multivariable logistic regression analysis.
MMP3	Rs3025058	rs1799864 (G), rs3025058 (A) and rs662 were associated with increased risk, and rs1800775 (A) with reduced risk of recurrent venous thromboembolism no influence on varicose veins.
MMP3	Rs650108	A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene.
MMP3	Rs679620	A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene.
MMP3	Rs679620	An interaction resulting in increased risk for Achilles tendinopathy was also reported between the rs679620 (G) and COL5A1 rs12722 (T) alleles (p = 0.006).
MMP9	Rs17576	Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
MMP9	Rs17577	MMP9 polymorphisms and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study.
MMP9	Rs2250889	There was an additive effect of having additional MMP9 risk alleles.
MPL	Rs146249964	Aka c.79+2T>AThis variant in the thrombopoietin receptor-encoding gene, MPL, was reported in 2011 to be a founder mutation the Ashkenazi Jewish (AJ) population for CAMT (congenital amegakaryocytic thrombocytopenia), and the carrier frequency was estimated to be 1 in 75.
MPO	Rs2333227	If they are also H. pylori-infected, they have a 7.9x increased risk of gastric cancer, either intestinal or diffuse types.
MPZ	Rs121913584	Aka c.270C>G (p.Asp90Glu or D90E) and also c.270C>A (p.Asp90Glu). both are likely to be pathogenic for Charcot-Marie-Tooth disease type 1B, a dominantly inherited disorder, according to ClinVar.
MSH2	I5008753	Lynch syndrome rs193922376.
MSH2	I5900960	Lynch syndrome rs63750347.
MSH2	Rs193922371	Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
MSH2	Rs2303428	Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
MSH3	Rs863221	Colorectal cancer survival rs863221, located in MSH3 (HR: 0.59, 95% confidence interval (CI) 0.42-0.82, p-value: 0.001).
MSH5	Rs1150793	HLA-B 5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.
MSMB	Rs10993994	rs10993994 linked to prostate cancer/ cancer-genetics these snps influence genetic risk for prostate cancer the haplotype rs6983267 rs1016343 rs4242384 rs7501939 rs1859962 rs2660753 rs9364554 rs6465657 rs10993994 rs7931342 rs2735839 rs5945619.
MT-ATP6	I3000812	Haplogroups,23andMe|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H1c|derived_haplogroup=H1c1|ancestral_allele=A|derived_allele=G}}.
MT-CO3	I3001497	Influences haplogroups).
MT-ND1	Rs199476118	rs199476118, also known as m.3460G>A, Ala52Thr and A52T, is a mutation in the mitochondrial ND1 MT-ND1 gene.This is considered to be one of the three most common mutations in patients with Lebers optic atrophy; about 13% of all such patients carry the rs199476118 (A) mutation.
MT-ND1	Rs41402945	Haplogroups|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H|derived_haplogroup=H4|ancestral_allele=C|derived_allele=T}}.
MT-ND1	Rs41524046	This SNP is found on the mtDNA and is related to Mitochondrial_Haplogroup|mitochondrial haplogroups.
MT-ND4	I3000989	Haplogroups,23andMe|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H2a|derived_haplogroup=H2a4|ancestral_allele=C|derived_allele=T}}.
MT-ND4	Rs199476112	rs199476112, also known as m.11778G>A, Arg340His and R340H, is a mutation in the mitochondrial ND4 MT-ND4 gene.This is considered to be the most common mutation in patients with Lebers optic atrophy; about 69% of all such patients carry the rs199476112 (A) mutation.
MT-ND4	Rs28358282	Haplogroups,Achilli 2004 (H2c) |tree=PhyloTree|tree_build=7|ancestral_haplogroup=H2a|derived_haplogroup=H2a3|ancestral_allele=T|derived_allele=C}}.
MT-ND4	Rs2853493	One of 3 Mitochondrial mutations that together define Mitochondrial Haplogroup U, and its descendants.This is a synonymous change that still codes for the exact same amino acid, so it probably has no biological effect.
MT-ND5	I3001191	Haplogroups,23andMe|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H3|derived_haplogroup=H3a|ancestral_allele=T|derived_allele=C}}.
MTHFD1	Rs781065280	Aka NM_005956.3 (MTHFD1) :c.727+1G>AOMIM pathogenic variant.
MTHFD1	Rs760889414	Aka NM_005956.3 (MTHFD1) :c.673G>T or (p.Glu225Ter) OMIM pathogenic variant.
MTHFD1	Rs8003379	rs8003379 is reported to represent a risk factor for abdominal aortic aneurysm (AAA), with odds ratio of 0.41 (CI: 0.26-0.65).
MTHFD1	Rs1076991	rs1076991 C > T exerts a significant effect on promoter activity in vitro and along with rs2236225 G > A influences embryonic development.
MTHFD1	Rs2236225	Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.
MTHFR	Rs12121543	Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.
MTHFR	Rs17037396	Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data.
MTHFR	Rs17367504	/ 23andMe blog blood pressureHigh Blood Pressure (Hypertension).
MTHFR	Rs17421511	Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data.
MTHFR	Rs1801131	rs1801131 shows no consistent association with schizophrenia overall in 12 studies totaling 3,000+ patients.
MTHFR	Rs1801133	This SNP) has been linked at least once to each of the following disorders (though not necessarily reproducibly) : autism cancer, including gastric cancer lung cancer head and neck cancer renal cancer cleft lip and cleft palate coronary artery disease dementia depression hyperhomocysteinemia migraine neural tube defects pre-eclampsia (gestational hypertension) schizophrenia thrombosis down syndromePubMed lists over 3,000 studies linking rs1801133 to a long list of disorders in various populations across the world, of which only some are mentioned above.
MTHFR	Rs1801133	MTHFR 677C&#8594;T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 1.91Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data.
MTHFR	Rs1801133	rs1801133 shows no consistent association with schizophrenia overall in 12 studies totaling 3,000+ patients.
MTHFR	Rs2066462	A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
MTHFR	Rs2066470	Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians.
MTHFR	Rs3737964	Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians.
MTHFR	Rs4846048	Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians.
MTHFS	Rs6495446	rs6495446, an intronic SNP in the MTHFS gene, was associated with increased risk for chronic kidney disease based on a study associated with the Framingham Heart Study of ~1,000 Caucasian individuals.
MTHFS	Rs6495446	News 23andMe reports this same information with a different emphasis since the T allele is the minor allele in both European and Asian populations: each T allele lowers the odds of chronic kidney disease by 0.8 times.
MTRR	Rs2303080	Mutation can cause shortage, suggesting a need for more B12.
MTRR	Rs162036	Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
MTTP	Rs146064714	Aka c.2593G>T, p.Gly865Ter and G865XWith a carrier frequency of 1 in 131 among Ashkenazi Jews, the recessively inherited rs146064714 (T) variant is the basis of an incidence rate for abetalipoproteinemia of about 1 in 70,000 in this population.
MTTP	Rs17029215	Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
MTTP	Rs3816873	Also known as I128T MTP rare allele of the MTP I128T polymorphism may be protective against impaired glucose tolerance, type-2 diabetes Association of polymorphisms in glutamate-cysteine ligase catalytic subunit and microsomal triglyceride transfer protein genes with nonalcoholic fatty liver disease.
MTTP	Rs755155385	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
MUC1	Rs4072037	Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population.
MUC1	Rs4072037	A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.
MUTYH	Rs371848318	Aka NM_025077.3 (TOE1) :c.307G>A or (p.Ala103Thr) OMIM pathogenic variant.
MUTYH	Rs36053993	Both rs34612342 and rs36053993 are considered founder mutations that first arose in ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively.People with two copies of a single mutation in the MUTYH gene are at higher risk of developing multiple adenomatous polyps and colorectal cancer.
MUTYH	Rs34612342	Both rs34612342 and rs36053993 are considered founder mutations that first arose in ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively.Germline bi-allelic mutations in the MUTYH gene increase the risk of developing multiple adenomatous polyps and colorectal cancer.
MUTYH	Rs147487160	Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
MUTYH	Rs143353451	Aka c.545G>A (p.Arg182His or R182H), and also c.545G>T (p.Arg182Leu or R182L). the former is considered pathogenic in ClinVar for a hereditary cancer-predisposing syndrome (polyposis), while the latter is a variant of uncertain significance.
MUTYH	Rs3219489	Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.
MVK	Rs2287218	The authors hypothesize that rs2287218 is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels.
MYBPC3	I5005171	rs121909377 familial hypertrophic cardiomyopathy, type 4.
MYBPC3	I5046177	rs397516074 familial hypertrophic cardiomyopathy.
MYBPC3	I5046245	See discussion at rs397515963 familial hypertrophic cardiomyopathy.
MYBPC3	Rs111437311	The rare minor allele of this variant, c.1624+2T>C, is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYBPC3	Rs111683277	Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
MYBPC3	Rs113358486	The rare minor allele of this variant is reported to be pathogenic for familial hypertrophic cardiomyopathy (HCM), according to in one person.
MYBPC3	Rs113358486	Genetics of hypertrophic cardiomyopathy in Norway.
MYBPC3	Rs11570112	For multiple reasons discussed below, interpretation of the impact of this SNP is highly problematic.In addition to the reporting discrepancies between two different DTC labs (AncestryDNA and 23andMe) discussed below, the ClinVar record is decidedly mixed about whether this is, or is not, a pathogenic mutation for hypertrophic cardiomyopathy.
MYBPC3	Rs181834806	The past people with this variant were told that this variant is Likely Pathogenic for Hypertrophic Cardiomyopathy.
MYH14	Rs648298	Deafness.
MYH14	Rs28940306	Deafness.
MYH14	Rs28940307	Deafness.
MYH6	Rs365990	It was not, however, associated with atrial fibrillation (p=0.14 combined), pacemaker (p=0.13 combined), sick sinus syndrome (p=0.18 combined), or advanced AV block (p=0.33 combined).
MYH7	I6015303	rs121913626 familial hypertrophic cardiomyopathy.
MYH7	Rs121913627	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.This mutation is reported to be one of the four most common HCM-associated in Finland.
MYH9	Rs739097	Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.
MYH9	Rs80338826	Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
MYH9	Rs80338827	Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
MYH9	Rs80338828	A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
MYH9	Rs80338829	Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.
MYH9	Rs80338835	Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
MYLK	Rs387906781	C.5275T>C (p.Ser1759Pro) Mutations in myosin light chain kinase cause familial aortic dissections.
MYLK	Rs387906782	C.4438C>T (p.Arg1480Ter) Mutations in myosin light chain kinase cause familial aortic dissections.
MYLK	Rs936170	Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma.
MYO18B	Rs869312740	Aka NM_032608.6 (MYO18B) :c.6496G>T or (p.Glu2166Ter) OMIM pathogenic variant.
MYO6	Rs28936390	Deafness.
MYO6	Rs28936391	Deafness.
MYO7A	Rs111033178	Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
MYO7A	Rs111033178	Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
MYO7A	Rs1052030	Aka c.47T>C (p.Leu16Ser) and also c.47T>A (p.Leu16Ter). the former is benign, while the latter is pathogenic for a recessive form of deafness (type 2, Usher syndrome) Susceptibility genes for gentamicin-induced vestibular dysfunction.
MYO7A	Rs111033174	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
MYOC	Rs74315329	23andMe name: i5007108The rs74315329 (T) allele (in dbSNP orientation) has been reported to be a pathogenic autosomal dominant mutation leading to primary open angle glaucoma with either early-onset or juvenile onset./ ClinVarHowever, other reports indicate that inheritance does not follow a simple dominant model (), and full sequencing has incidentally uncovered several adults who harbor this mutation yet who lack a significant family history and also do not show show signs of glaucoma, at least at the time of examination.The penetrance of the variant varies in different scenarios.A polygenic risk score influencing the likelihood of glaucoma progression in Q168X carriers (and possibly others) was published in 2020.
MYOC	Rs74315330	C.1109C>T (p.Pro370Leu) 23andMe name: i5007109 Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.
MYOC	Rs74315335	C.1010A>G (p.Gln337Arg) 23andMe name: i5007113.
MYOC	Rs74315337	C.136C>T (p.Arg46Ter) 23andMe name: i5007115.
NAT2	Rs1799930	No association between NAT2 6A and AHRI was found in a study of 265 elderly UK volunteers.
NAT2	Rs1801279	See the discussion of the NAT2 gene for a more complete explanation.The risk allele for this SNP is rs1801279 (A).
NAT2	Rs1801280	rs1801280, also known as T341C, is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited.
NBN	I5012770	See extensive discussion at rs587776650 Nijmegen breakage syndrome and association with numerous cancers rs587776650.
NBN	Rs1805794	Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkins lymphoma.
NBN	Rs34767364	Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
NCF4	Rs4821544	A study of 507 CD patients, 475 UC patients and 576 controls from New Zealand Caucasians found that rs4821544, a SNP in the NCF4 gene, was associated specifically with ileal Crohns disease but not with other forms of inflammatory bowel disease.
NCF4	Rs4821544	The reported odds ratio was 1.425, CI: 1.092-1.859, p=0.009. rs4821544 increases susceptibility to Crohns disease 1.19 times for carriers of the C allele.
NDRG1	I5008730	rs119483085 Charcot-Marie-Tooth disease, type 4D.
NEFL	Rs58640772	Aka NM_006158.4 (NEFL) :c.48_60dupGCGCTACGTGGAG or (p.Thr21Alafs) OMIM pathogenic variant.
NF1	Rs199474785	Aka c.2530C>T, p.Leu844Phe and L844Fsee NF1.
NF2	Rs1060503670	NM_000268.3 (NF2) :c.517-2A>G.
NF2	Rs587776562	This mutation in the NF2 gene is also known as c.240+1G>T, and it is considered pathogenic for neurofibromatosis, type 2.
NFKB1	Rs1585215	The odds ratio for rs1585215 (G;G) homozygotes was 3.5 (CI: 2.2-5.7, Ptrend = 1.7 x 10 (-8) ), and for (A;G) heterozygotes, 2.1 (CI: 1.5-2.9).
NFKB1	Rs4648022	Non-Hodgkins lymphoma rs4648022 ) was associated with NHL risk overall (ordinal OR, 0.59; 95% CI, 0.41-0.84; P (trend) = 0.0037).
NFKB1	Rs4648127	News linked to a 21% reduced risk of lung cancer.
NFKBIL1	Rs2230365	Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk.
NGF	Rs6330	rs6330 (C;C) females had higher levels of trait anxiety than (C;T) or (T;T) females, while the opposite effect was seen in males.
NGLY1	Rs201337954	Carriers of one such allele are generally unaffected, but if the other allele is defective, this leads to congenital disorder of deglycosylation (CDDG).Be wary of ambiguous flips with this SNP due to orientation issues.
NLRP1	Rs115799546	rs115799546, also known as c.1732G>A, p.Gly578Ser and G578S, represents a rare mutation in the NLRP1 gene on chromosome 17.Based on exome sequencing of a family with two sibs affected by multiple sclerosis and malignant melanoma, a 2017 publication concluded that when inherited recessively, the rs115799546 (T) allele (in dbSNP orientation) may cause both conditions.
NLRP1	Rs12150220	SNPs in this gene may be involved in higher risk for several autoimmune diseases.In a study investigating large patient cohorts from six different autoimmune diseases, including autoimmune Addisons disease (n=333 patients), type-1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), plus 3273 healthy controls, the rs12150220 (A) allele was associated with higher risk for both autoimmune Addisons disease (odds ratio 1.25, CI: 1.06-1.49, p = 0.007) and type-1 diabetes (odds ratio 1.15, CI: 1.04-1.27, p = 0.005).
NLRP1	Rs6502867	Linked to generalized vitiligo Individuals carrying high-risk alleles of both rs6502867 and rs2670660 had an odds ratio of 4.20 compared with individuals carrying a high-risk allele from only one signal.
NLRP12	Rs774895361	Aka NM_001277126.1 (NLRP12) :c.1223G>A or (p.Trp408Ter) OMIM pathogenic variant.
NLRP3	Rs145268073	In ClinVar, this mutation is tagged by different submitters as either likely to be pathogenic or likely to be benign, however, one submitter also notes that the R490K variant has been observed in multiple patients... with clinical phenotypes, including two patients with hearing loss, consistent with NLRP3-related periodic fevers syndromes.Overall, the jury is clearly out on whether this variant is clinically meaningful or not.
NLRP3	Rs3806265	rs3806265 was associated with juvenile idiopathic arthritis based on a study of 950 Caucasian patients.
NOD2	Rs9302752	SNPs in both the NOD2 and TNFSF15 genes are also associated with susceptibility to Crohns disease.Leprosy Susceptibility.
NOD2	Rs5743289	Aka c.2798+158C>TThis quite common variant has been linked to several autoinflammatory disorders, but it appears to be quite a complex interaction that is still not well understood (and only affects a small fraction of the people who carry it anyway).
NOD2	Rs5743277	NOD2 SNP, aka R703COne of 11 SNPs used in a genetic risk score for inflammatory bowel disease.
NOD2	Rs2076756	Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.
NOD2	Rs2067085	Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
NOD2	Rs2066847	rs2066847 is one of several SNPs referring to a one base insertion into a run of Cs within exon 11 of the NOD2 gene; the other SNPs are rs5743293 and rs112436597.The two initial reports linking this insertion variant with Crohns disease are and.
NOD2	Rs2066845	In a 2018 publication, rs2066845 was reported to be associated with sarcoidoisis, possibly in conjunction with other variants in the IL17RA, KALRN and EPHA2 genes.
NOD2	Rs3135499	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
NOD2	Rs17221417	Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
NOD2	Rs104895462	CARD15 mutations in Blau syndrome.
NOD2	Rs104895461	CARD15 mutations in Blau syndrome.
NOD2	Rs104895460	CARD15 mutations in Blau syndrome.
NOD2	Rs104895444	NOD2 SNP, aka V793MOne of 11 SNPs used in a genetic risk score for inflammatory bowel disease.
NOD2	Rs104895431	NOD2 SNP, aka S431LOne of 11 SNPs used in a genetic risk score for inflammatory bowel disease.
NOD2	Rs2066844	rs2066844 is a SNP in the NOD2 gene; the SNP is also known as R702W or Arg702Trp, with the (C) allele encoding the Arg (R) and the (T) allele encoding the Trp (W).The two initial reports linking the minor (T) allele as strongly associated with Crohns disease are and. rs2066844 is mentioned in as being strongly associated with Crohns disease No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.
NOS2	Rs4795067	Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.
NOS2	Rs8078340	Investigation of chromosome 17 candidate genes in susceptibility to TB in a South African population.
NOS2	Rs3729508	Single nucleotide polymorphisms in the NOS2 and NOS3 genes are associated with exhaled nitric oxide.
NOS2	Rs2779251	Chronic lymphocytic leukemia rs2266690 rs17028658 rs4505265 rs1045485 rs2779251 rs3136687 Influence of the inducible nitric oxide synthase gene (NOS2A) on inflammatory bowel disease susceptibility.
NOS2	Rs2297518	Ser608Leu polymorphisms in the nitric oxide synthase-2 gene may influence urinary bladder cancer pathogenesis.
NOS2	Rs1060826	Nitric oxide synthase genes and their interactions with environmental factors in Parkinsons disease.
NOS2	Rs1060826	NOS2A and the modulating effect of cigarette smoking in Parkinsons disease.
NOS2	Rs1060822	Association between recurrent aphthous stomatitis and inheritance of a single-nucleotide polymorphism of the NOS2 gene encoding inducible nitric oxide synthase.
NOS3	Rs1799983	Left ventricular hypertrophy in human essential hypertension OR=1.5.
NOS3	Rs2070744	The NOS3 gene encodes nitric oxide synthase 3, and is also known as eNOS; rs2070744 is a SNP in the promoter region that is associated with higher levels of the corresponding mRNA (and possibly protein).Associations for the risk allele (C) of this SNP include: Rheumatoid Arthritis, and, heart disease|cardiovascular mortality in high-risk patients Progression (but not occurence) of prostate cancer Men who carry the C allele responded more favorably to the antihypertensive effects of aerobic exerciseCurrent HapMap data for this SNP appears wrong (ss42994451).
NOS3	Rs3918226	Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
NOS3	Rs3918226	Endothelial nitric oxide synthase polymorphism rs3918226 associated with hypertension does not affect plasma nitrite levels in healthy subjects.
NOS3	Rs3918227	Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.
NOS3	Rs4496877	rs4496877 is a SNP near the NOS3 gene.Several Type-1 diabetes patients pools, totaling over 2,000 patients, plus a meta-analysis were involved in a study concluding that in such patients, the rs4496877 was associated with higher risk for nephropathy.
NOS3	Rs891512	Protective haplotype C-T-A ( rs2070744 - rs1799983 - rs891512 ) was observed (P = 0.01) with a pronounced effect against suicide completion (P = 0.005).
NOTCH1	Rs41309764	Carriers of one rs41309764 (T) allele, such as Arnold Schwarzenegger, will develop an early developmental defect in the aortic valve leading to a bicuspid aortic valve, and without treatment, they are prone to progressive aortic valve disease in their later life due to calcification.
NPC1	Rs28942106	Sequence-based human leukocyte antigen-B typing of patients infected with Ebola virus in Uganda in 2000: identification of alleles associated with fatal and nonfatal disease outcomes.
NPC1L1	Rs145297799	Believed to be NPC1L1 p.Arg406X as described at.
NPHS2	Rs12406197	ClinVar: Likely benign.
NPPA	Rs5067	rs5067 is a SNP in the natriuretic peptide precursor A NPPA gene.In a study of ~500 asthma patients, rs5067 (G) were at reduced (50% or 76%) risk; the odds ratio in the first and second populations were 0.5 (CI: 0.29-0.84, p=0.009) and 0.24 (CI: 0.11-0.53, p<0.0001), respectively.
NPPA	Rs5068	A study of ~15,000 Europeans found that increased circulating natriuretic peptide and thus lower blood pressure and hypertension were associated with SNPs rs17376328 (A), rs5068, rs198358 (C), rs632793 (G) / 23andMe blog.
NR3C1	Rs10052957	Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life.
NR3C1	Rs10482605	rs10482605 (C) and rs6198 form a haplotype responsible for both regulation of glucocorticoid expression and mRNA stability and therefore theorized to be associated with major depression.
NR3C1	Rs10482682	Glucocorticoid receptor gene variant in the 3 untranslated region is associated with multiple measures of blood pressure.
NR3C1	Rs6195	Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients.
NR3C2	Rs1490453	Gwas among adults residing on Korcula Island in Croatia, fibrinogen, the A allele associated with increased fibrinogen levels<br><br>.
NRG1	Rs3924999	A significant association between rs3924999 and Alzheimers disease with psychosis.
NRG1	Rs7835688	Fine mapping of the NRG1 Hirschsprungs disease locus.
NRXN1	Rs6721498	rs6721498 has been reported to be associated with increased risk for nicotine dependence.
NRXN1	Rs2024513	rs2024513 is a SNP in the neurexin-1 NRXN1 gene on chromosome 2p16.3.Based on a case-control study of 700+ Han Chinese patients with schizophrenia, rs2024513 (A) was associated with higher risk, at an odds ratio of 1.3 (CI: 1.07 - 1.56, p=0.006).
NRXN1	Rs17041183	rs17041183 is in linkage disequilibrium with a polymorphism that increases susceptibility to Substance dependence, Nicotine 2.09 times for carriers of the G allele.
NRXN1	Rs2193225	rs2193225 has been reported to be associated with increased risk for nicotine dependence.
NRXN1	Rs12467557	rs12467557 increases susceptibility to Substance dependence, Nicotine 1.81 times for carriers of the C allele.
NRXN1	Rs12623467	rs12623467 increases susceptibility to Substance dependence, Nicotine 2.09 times for carriers of the C allele.
NRXN1	Rs10490162	rs10490162 increases susceptibility to Substance dependence, Nicotine 1.65 times for carriers of the C allele.
NSD1	Rs28932178	Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
NSMCE3	Rs199905054	rs199905054, also known as c.790C>T, p.Leu264Phe and L264F, represents a missense change in the NSMCE3 gene on chromosome 15.When homozygous or compound heterozygous, the rare rs199905054 minor allele can lead to fatal pneumonia in children, due to a chromosome breakage syndrome tentatively named lung disease immunodeficiency and chromosome breakage syndrome (LICS).
NUDT15	Rs116855232	This SNP was also strongly associated with thiopurine-induced leukopenia in subjects with inflammatory bowel disease of European descent (OR 9.5, p = 4.64 × 10e-4).
NUDT15	Rs116855232	C.415C>T, p.Arg139Cys, R139C; associated with poor response to azathioprine and mercaptopurineThe rs116855232 (T) allele was strongly associated with thiopurine-induced early leukopenia (OR 35.6, p = 4.88 × 10e-94), based on a study of ~1000 Koreans, where this variant demonstrated sensitivity and specificity of 89.4% and 93.2%, respectively, for thiopurine-induced early leukopenia.
OCA2	Rs4778241	A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
OCA2	Rs1800414	The OCA2 gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region./ 23andMe blog each rs1800414 (C) was associated with a 1.3 melanin unit reduction in skin pigmentation.
OCA2	Rs4778138	Freckling.
OCA2	Rs4778241	Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
OGG1	Rs2304277	Modifies risk of ovarian cancer in BRCA1 mutation carriers, study size 23,463 mutation carriers.
OGG1	Rs1052133	However, a Danish study of 400 lung cancer patients found no association.
OGG1	Rs1052133	In addition, if evaluated only in non-smokers, the adjusted odds ratio increased to 2.78 (CI: 1.39-5.60; p < 0.01).A study of 200 Chinese patients with gallbladder cancer concluded that increased risk was associated with both the (C;G) genotype (odds ratio 1.9, (CI: = 1.0-3.7) and the (G;G) genotype (odds ratio 4.5, CI: 1.1-22.4).A study of 300 lung cancer patients of various ethnicities found that the (G;G) genotype was associated with an odds ratio of 2.1 (CI: 1.2-3.7), regardless of sex or ethnicity.
OPN1LW	Rs2315122	Colorblindness /.
OPN1LW	Rs2315123	Colorblindness /.
OPN1MW	Rs28935199	In a small number of cases, SNPs in opsin genes can also lead to colorblindness. rs28935199 is an example of such a SNP.
OPN1MW	Rs28935199	One Japanese male homozygous for the rs28935199 (A) allele, which causes a change from an arginine to a glutamine in the green opsin protein at position 330, has been observed to be colorblind.
OTC	Rs5963409	rs5963409 is a SNP in the ornithine carbamoyltransferase OTC gene; this SNP is also known as the -389 G/A SNP.Previous association studies were extended to a population of 2113 Alzheimers disease cases and 1580 controls from northern France, western France, the United Kingdom and Italy.
OTC	Rs5963409	The rs5963409 (A) minor allele was weakly but significantly associated with an increased risk of developing Alzheimers disease (odds ratio 1.19, p = 0.004).
OTOF	Rs28937591	Deafness.
PADI3	Rs142129409	Uncombable hair syndrome variant in PADI3 gene, c.335T>A or p.Leu112His.
PADI3	Rs144944758	Uncombable hair syndrome variant in PADI3 gene, c.1813C>A or p.Pro605Thr.
PADI4	Rs2240339	rs2240339 increases susceptibility to Rheumatoid Arthritis 1.75 times for carriers of the A allele.
PADI4	Rs2240340	Additional studies include: rs2240340 was modestly associated with rheumatoid arthritisin a study of 950 unrelated Japanese subjects with RA, with an odds ratio of 1.22 (CI: 1.04 - 1.43,p=0.012).
PADI4	Rs2240338	rs2240338 increases susceptibility to Rheumatoid Arthritis 1.82 times for carriers of the G allele.
PADI4	Rs2240335	rs2240335 is in linkage disequilibrium with a polymorphism that increases susceptibility to Rheumatoid Arthritis 1.75 times for carriers of the G allele.
PADI4	Rs1748035	rs1748035 is in linkage disequilibrium with a polymorphism that increases susceptibility to Rheumatoid Arthritis 1.09 times for heterozygotes (AG) and 1.10 times for homozygotes (AA) rs1748035 is in linkage disequilibrium with a polymorphism that increases susceptibility to Rheumatoid Arthritis 1.20 times for heterozygotes (AG) and 1.68 times for homozygotes (AA) rs1748035 is in linkage disequilibrium with a polymorphism that increases susceptibility to Rheumatoid Arthritis 2.00 times for carriers of the A allele.
PADI4	Rs1748033	rs1748033 increases susceptibility to Rheumatoid Arthritis 1.09 times for heterozygotes (AG) and 1.10 times for homozygotes (AA) rs1748033 increases susceptibility to Rheumatoid Arthritis 1.20 times for heterozygotes (AG) and 1.68 times for homozygotes (AA) rs1748033 increases susceptibility to Rheumatoid Arthritis 2.00 times for carriers of the A allele.
PADI4	Rs1748031	rs1748031 increases susceptibility to Rheumatoid Arthritis 1.92 times for carriers of the T allele.
PADI4	Rs1621005	rs1621005 increases susceptibility to Rheumatoid Arthritis 1.89 times for carriers of the G allele.
PADI4	Rs11203367	rs11203367 increases susceptibility to Rheumatoid Arthritis 1.26 times for carriers of the T allele rs11203367 increases susceptibility to Rheumatoid Arthritis 1.50 times for carriers of the T allele rs11203367 increases susceptibility to Rheumatoid Arthritis 1.97 times for carriers of the T allele.
PADI4	Rs11203366	PADI4 gene polymorphism is not associated with ankylosing spondylitis in Chinese Han population.
PADI6	Rs7538876	2 SNPs located in different regions of chromosome 1 are likely to be associated with increased risk for basal cell carcinoma (BCC), the most common form of skin cancer.
PADI6	Rs7538876	Each A at rs7538876 yields a 1.28x increased risk of developing BCC (p = 4.4 x 10e-12) each G at rs801114 also yields a 1.28x increased odds of developing BCC (p = 5.9 x 10e-12) 2.68x increased risk of BCC for homozygous carriers of both SNPsThis study was based on an analysis of ~2,000 Icelandic and Eastern European skin cancer patients (as well as a large number of controls).
PAH	I4000478	Phenylketonuria rs118203925.
PAH	I4000477	Phenylketonuria rs62514953.
PAH	I4000476	Phenylketonuria rs62516092.
PAH	I4000475	Phenylketonuria rs62642933.
PAH	Rs1522305	rs1522305 is a SNP in the phenylalanine hydroxylase (PAH) gene.A study of Caucasian cohorts, Bulgarian families, and African American families concluded that the more common rs1522305 (G) allele was associated in the first two populations with increased risk for schizophrenia.
PAH	I4000472	Phenylketonuria rs75193786.
PAH	I4000470	Phenylketonuria rs62642926.
PAH	I3003403	Phenylketonuria rs5030856.
PAH	I3003398	Phenylketonuria rs5030846.
PAH	I4000473	Phenylketonuria rs76296470.
PAH	Rs5030858	If present in two copies, or present along with another PAH mutant, this SNP is associated with phenylketonuria.A good write-up on this SNP can be found at OMIM.
PALB2	Rs515726124	Breast-Cancer Risk in Families with Mutations in PALB2see also ClinVar (where clinical significance = pathogenic) and.
PALB2	Rs587776409	C.956_962del (p.Ser319Terfs).
PALB2	Rs515726065	Breast-Cancer Risk in Families with Mutations in PALB2see also ClinVar (where clinical significance = pathogenic).
PALB2	Rs180177132	rs180177132, also known as c.3113G>A or p.Trp1038, represents a very rare mutation in the PALB2 gene on chromosome 16.A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177132 (A) carriers had an odds ratio of 4.2 (CI:1.8-9.6; p=6.9×10e-8) and a 95% (CI: 44-99%) chance of developing the disease by age 70.
PALB2	Rs180177102	rs180177102, also known as c.1592delT and p.Leu531Cysfs, is a mutation in the PALB2 gene on chromosome 16.The deletion variant, rs180177102 (-), has been found in a 2015 meta-analysis to lead to a combined increased relative risk for breast cancer of 5.3 (CI: 3.0 to 9.4).A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177102 (-) carriers had an odds ratio of 3.44 (CI:1.4-8.5; p=7.1×10e-5) and a 40% (CI: 18-77%) chance of developing the disease by age 70.This mutation appears to be renamed i4000488 by 23andMe.
PALB2	I4000488	See discussion at rs180177102 breast cancer.
PALLD	Rs1071738	That is linked to metastasis.
PALLD	Rs12510359	rs12510359 increases susceptibility to Myocardial Infarction 0.98 times for heterozygotes (AG) and 1.40 times for homozygotes (GG) However, an independent study of 3657 patients with myocardial infarction (885 women and 2772 men) and 1211 control individuals (598 women and 613 men) did not observe any correlation to this SNP.
PALLD	Rs7439293	The risk allele in terms of heart disease is rs7439293 (A).This SNP is one of the 5 used by Celeras genetic risk score (GRS) for coronary heart disease (CHD).
PARK7	I5047037	rs74315351 Parkinsons disease, type 7.
PARK7	I5047038	rs74315354, but note ClinVar entry is for haplotypeParkinsons disease, type 7.
PARK7	I5047043	rs74315352 Parkinsons disease, type 7.
PARK7	I5047044	rs74315353 Parkinsons disease, type 7.
PARK7	I5047046	rs137853051 Parkinsons disease, recessive/early-onset, digenic.
PARK7	Rs28938172	C.497T>C (p.Leu166Pro or L166P) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 7) See also OMIM 602533.000223andMe calls this i5047042.
PARK7	Rs3766606	192 patients with sporadic Parkinsons disease and 198 healthy controls.
PARK7	Rs74315351	C.78G>A (p.Met26Ile or M26I) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease.See also OMIM 602533.000323andMe names this i5047037.
PARK7	Rs74315353	C.192G>C (p.Glu64Asp or E64D) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 7) See also OMIM 602533.000523andMe names this i5047044.
PARK7	Rs74315354	C.-24+75_-24+92dup;487G>A – Haplotype23andMe calls this i5047038.
PAX2	Rs75399846	Aka NM_000278.4 (PAX2) :c.706C>T or (p.Gln236Ter) OMIM pathogenic variant.
PAX5	Rs398123063	rs398123063 (A), a rare variation known as c.547G>A or Gly183Ser, has been associated with autosomal dominant B cell precursor acute lymphoblastic leukemia (B-ALL).
PCDH15	I5012804	Usher Syndrome Type I (PCDH15-related) rs111033260.
PCSK1	Rs6232	rs6232 G allele (in dbSNP orientation) linked to 1.34x increased risk of obesity rs6234 / rs6235 (or rs10515237 ) see also: / spitoonObesity: Preliminary Research.
PCSK9	I5000370	rs28942112 familial hypercholesterolemia.
PCSK9	Rs11591147	The set of SNPs was as follows, ordered from strongest to least effect on coronary risk, and the allele shown is the one associated with reduced LDL-C levels along with the associated (or nearby) lipid metabolism gene: rs11591147 (T), PCSK9 rs4420638 (A), APOE rs6511720 (T), LDLR rs599839 (G), SORT1 rs646776 (C), SORT1 rs2228671 (T), LDLR rs11206510 (C), PCSK9 rs4299376 (T), ABCG8 rs12916 (T), HMGCR/ 23andMe blog The T version of rs11591147 and the A version of rs28362286 have both been associated with decreased LDL levels.
PCSK9	Rs137852912	Aka c.1120G>T, p.Asp374Tyr or D374Yreported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery diseaseThis SNP was not present on earlier versions of the Ancestry v2 DNA chip (originally released ~May 2016), but is now present in some v2 data files from Ancestry starting sometime in 2018.
PCSK9	Rs2479409	Molecular population genetics of PCSK9: a signature of recent positive selection.
PCSK9	Rs28362263	rs28362263, also known as A443T, is a SNP in the PCSK9 gene.It has been reported in several studies (including and ) to be a loss-of-function mutation leading to modestly (~3%) lowered LDL-C levels and thereby somewhat reduced risk for coronary events.
PCSK9	Rs28362286	Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.
PCSK9	Rs505151	Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
PCSK9	Rs562556	rs505151 rs562556 show evidence of gain-of-function mutations that are associated with higher LDL cholesterol levels.
PCSK9	Rs67608943	This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events.
PCSK9	Rs72646508	rs72646508, also known as L253F, is a SNP in the PCSK9 gene.It has been reported in several studies (including and ) to be associated with reductions in total cholesterol as well as LDL-C, and most importantly, with significantly lowered risk for coronary events.
PDE4D	Rs12188950	In both a multi-site study including 2,500+ Swedish patients and a meta-analysis of 10,000+ patients in 17 publications, no association between rs12188950 and risk for ischemic stroke was found.
PDE4D	Rs1544791	Asthma-susceptibility variants identified using probands in case-control and family-based analyses.
PDE4D	Rs702553	Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.
PDX1	Rs80356661	Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
PDX1	Rs9581943	A 2014 study Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer of 7,683 European cases and 14,397 controls found the minor allele rs9581943 (A) in PDX1 (pancreatic and duodenal homeobox 1) conferring risk of statistically genome-wide significance (per-allele odds ratio (OR) = 1.15, 95% confidence interval (CI) 1.10-1.20, P = 2.4E-9) for Pancreatic cancer.
PDZD7	Rs753034799	Aka NM_001195263.1 (PDZD7) :c.682G>A or (p.Gly228Arg) OMIM pathogenic variant.
PDZD7	Rs953422571	Aka NM_001351044.1 (PDZD7) :c.1528C>A or (p.Pro510Thr) OMIM pathogenic variant.
PER2	Rs121908635	rs121908635, also known as Ser662Gly or S662G, is a SNP in the period circadian clock 2 PER2 gene.This SNP is associated with the sleep disorder known as Familial Advanced Sleep Phase Syndrome (FASPS), a highly penetrant autosomal dominant trait.,Affected individuals are extreme morning larks; they show advanced sleep-phase syndrome, awakening and going to bed exceptionally early (by ~4 hours) to maintain a normal quantity and quality of sleep.
PEX1	I5012688	Peroxisome biogenesis disorderZellweger Syndrome Spectrum.
PEX1	Rs28939678	Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
PEX1	Rs61750420	rs61750420, also known as G843D or Gly843Asp, is a SNP in the peroxisomal biogenesis factor 1 PEX1 gene.The risk allele for this SNP, rs61750420 (A), is perhaps the most common PEX1 mutation in those of European ancestry, and it is linked to peroxisome biogenesis disorders such as NALD, IRD, and Zellweger syndrome, including peroxisome biogenesis disorders of complementation group 1.
PEX7	Rs61753238	The rare variant rs61753238 (G) allele leads to the autosomal recessive disorder Rhizomelic chondrodysplasia punctata type 1 disorder when inherited in two copies or in compound heterozygotes.
PEX7	Rs267608255	PEX7 IVS3, A-G, -10Rhizomelic chondrodysplasia punctata type 1This SNP is called i5006215 by 23andMe.
PEX7	Rs267608252	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
PEX7	Rs1805137	rs1805137, also known as c.875T>A, p.Leu292Ter or L292X, is a mutation in the peroxisome targeting signal 2 receptor PEX7 gene.This mutation, if inherited in two copies or with another defective PEX7 allele, is considered causative for Rhizomelic chondrodysplasia punctata type 1.This SNP is also called i3002517 and i6055953 by 23andMe.
PEX7	Rs148591292	PEX7 IVS9, G-C, +1Rhizomelic chondrodysplasia punctata type 1This SNP is called i5006214 and i6055954 by 23andMe.
PEX7	I6055954	Rhizomelic chondrodysplasia punctata type 1 rs148591292.
PEX7	Rs121909153	PEX7 Arg232Ter or R232XRhizomelic chondrodysplasia punctata type 1This SNP is called i5006212 by 23andMe.
PEX7	I6055953	Rhizomelic chondrodysplasia punctata type 1 rs1805137.
PEX7	I5006214	Rhizomelic chondrodysplasia punctata type 1 rs148591292.
PEX7	I3002517	Rhizomelic Chondrodysplasia Punctata Type 1 rs1805137.
PEX7	Rs121909154	PEX7 Tyr115Ter or Y115XRhizomelic chondrodysplasia punctata type 1.
PGM1	Rs11208257	This article concludes that Vata individuals as a group have a lower rs11208257 (C) allele frequency than the Pitta and Kapha phenotypes, who are more in line with the overall Indian population as well as Europeans.
PGR	Rs543215	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs666553	rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birthnon-black women a least one copy of the minor allele of rs503362 had a significant reduction with treatment with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth.
PGR	Rs660541	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs613120	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs608995	Two SNPs in block 4 were associated with an increased risk of ovarian cancer among homozygous carriers as compared with noncarriers: rs1042838 (PROGINS allele; odds ratio OR = 3.23, 95% confidence interval CI = 1.19 to 8.75, P =.022) and rs608995 (minor allele; OR = 3.10, 95% CI = 1.63 to 5.89, P<.001) Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis.
PGR	Rs578029	rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birthnon-black women a least one copy of the minor allele of rs503362 had a significant reduction with treatment with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth.
PGR	Rs565186	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs516693	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs481775	p-values account for ethnic heterogenity of study population.In, no evidence for linkage to colorectal cancer in women was found in a study with 158 European subjects and 563 controls.
PGR	Rs481775	Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women.
PGR	Rs1042838	Association of progesterone receptor with migraine-associated vertigo Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
PGR	Rs10895068	Association of +331G/A PgR polymorphism with susceptibility to female reproductive cancer: evidence from a meta-analysis.
PGR	Rs1870019	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PGR	Rs503362	rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birthnon-black women a least one copy of the minor allele of rs503362 had a significant reduction with treatment with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth.
PGR	Rs471767	rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birthnon-black women a least one copy of the minor allele of rs503362 had a significant reduction with treatment with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth.
PGR	Rs3740753	Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI Progesterone receptor polymorphisms and clinical response to 17-alpha-hydroxyprogesterone caproate Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
PHIP	Rs768324201	Aka NM_017934.6 (PHIP) :c.328C>A or (p.Arg110Ser) OMIM pathogenic variant.
PIEZO1	Rs200970763	Therefore, because the observed frequency is at least 100-fold higher than the estimated prevalence, it is unlikely that either of these variants is actually causative for xerocystosis.
PINK1	Rs45539432	Of the rs45539432 (C;T) heterozygotes, half showed no signs of Parkinsons, but the other half had subtle signs of disease, consisting of unilaterally reduced or absent arm swing and rigidity.Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6) 23andMe calls this i5047070.
PINK1	Rs3131713	G allele is a proxy for rs622525 (T) which is associated with higher PINK1 transcript levels.
PINK1	Rs2298298	A allele associated with higher PINK1 transcript levels.
PINK1	Rs74315359	C.938C>T (p.Thr313Met) 23andMe calls this i5003748.
PINK1	Rs10799655	Near the PINK1 gene, this SNP may be related to obesity and diabetes.Genomic variants at the PINK1 locus are associated with transcript abundance and plasma nonesterified fatty acid concentrations in European whites.
PINK1	Rs119451946	C.1196C>T (p.Pro399Leu) 23andMe calls this i5003745.
PINK1	I5003747	rs74315360 Parkinsons disease, type 6.
PINK1	Rs45478900	The study also showed Parkinsons disease could develop earlier (at about age 55) in G411S carriers compared to the age of onset (~65 years) in the common, nonfamilial forms of Parkinsons.
PINK1	I5003750	rs74315357 Parkinsons disease, type 6.
PITX1	Rs121909109	Aka c.388G>A (p.Glu130Lys) rs121909109 represents a variant in the PITX1 gene on chromosome 5; the rare rs121909109 (A) allele is considered a dominant mutation leading to talipes equinovarus, based on an analysis of a 5-generation family segregating asymmetric right-sided predominant clubfoot.
PITX1	Rs6872664	Mentioned by gs240 Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
PITX1	Rs6872664	Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk.
PKD1	Rs369825780	C.11277C>G (p.Tyr3759Ter) Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease.
PKD1	Rs2432403	NM_001009944.2:c.7288C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs200520583	C.8905C>T (p.Gln2969Ter) The variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs199476101	Polycystic Kidney disease; see OMIM 601313.0013NM_001009944.2:c.5764C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs199476100	Polycystic Kidney disease; see OMIM 601313.0012NM_001009944.2:c.2534T>CThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs199476099	Polycystic Kidney disease; see OMIM 601313.0011c.971G>T (p.Arg324Leu).
PKD1	Rs199476098	Polycystic Kidney disease; see OMIM 601313.0007NM_001009944.2:c.11457C>AThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs199476097	Polycystic Kidney disease; see OMIM 601313.0006NM_001009944.2:c.12261T>AThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs199476096	Polycystic Kidney disease; see OMIM 601313.0005NM_001009944.2:c.11512C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs34197769	It is likely to be a neutral change without known medical consequences according to ClinVar.
PKD1	Rs199476095	Polycystic Kidney disease; see OMIM 601313.0004NM_001009944.2:c.12682C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs1616940	NM_001009944.2:c.2180T>CThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs151257298	NM_001009944.2:c.7300C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs148812376	Aka c.9829C>T, p.Arg3277Cys and R3277CConsidered a hypomorphic mutation in terms of end-stage renal disease (ESRD) and autosomal dominant polycystic kidney disease; when homozygous, associated with adult onset ADPKD and when heterozygous more likely to result in the development of just a few cysts.
PKD1	Rs1064794207	C.1687C>T (p.Gln563Ter) Its likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, its also possible that its associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details.
PKD1	Rs1064793762	C.6913C>T (p.Gln2305Ter) Its likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, its also possible that its associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details.
PKD1	Rs1060499718	C.12310_12311delGT (p.Val4104Tyrfs) The variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database as well as in ClinVar.
PKD1	Rs1060499702	C.6424delC (p.Gln2142Argfs) Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease.
PKD1	Rs1057518897	In ClinVar, it is listed as pathogenic for hypertension and multiple renal cysts.
PKD1	Rs199476094	Polycystic Kidney disease; see OMIM 601313.0002NM_001009944.2:c.12124C>TThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD2	Rs145877597	Listed as highly likely to be pathogenic in the Autosomal Polycystic Kidney Disease database.23andMe name: i5047404.
PKD2	Rs200001068	Aka c.916C>T (p.Arg306Ter) 23andMe name: i5047394.
PKD2	Rs749004212	Aka c.958C>T (p.Arg320Ter). liked in PKD mutation database as definitely pathogenic23andMe name: i5047385.
PKHD1	I6016808	rs398124503 see PKHD1.
PKHD1	I6016818	rs137852945 see PKHD1.
PKHD1	I6016787	rs786204749 see PKHD1.
PKHD1	I6016714	rs142107837 see PKHD1.
PKHD1	I6016699	rs199531851 polycystic kidney disease.
PKHD1	I6016692	rs786204688 see PKHD1.
PKHD1	I5012612	Autosomal Recessive Polycystic Kidney disease rs137852949.
PKHD1	I5000044	rs199531851 polycystic kidney disease.
PKHD1	I5012610	Polycystic Kidney diseaseIt is not clear if 23andMe is reporting on this SNP. rs398124502.
PKHD1	I5012609	rs746838237 polycystic kidney disease.
PKHD1	I5000047	Autosomal Recessive Polycystic Kidney disease rs369925690.
PKHD1	I5000046	rs201082169 autosomal recessive polycystic kidney disease.
PKHD1	I5000043	Autosomal recessive polycystic kidney disease rs200511261.
PKHD1	I5012611	rs137852944 Polycystic kidney disease.
PKP2	Rs193922674	Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.
PKP2	Rs121434421	Additionally, mice engineered to contain this mutation exhibit right ventricular dysfunction resembling the ARVD phenotype when subjected to endurance exercising.See also OMIM 602861.0002.
PLA2G6	Rs2284063	/ 23andMe blog rs2284063 A 1.20 Melanoma.
PLCB1	Rs718712	rs11208305 and rs718712 implicated in insomnia.
PLCE1	Rs2274223	This same study, rs2274223 (G) was also associated with greater risk for gastric cancer (aka stomach cancer), with an odds ratio of 1.55 (1.74 x 10e-39).
PLIN1	Rs894160	In subjects with higher complex carbohydrate intake, the minor allele was protective against obesity, whereas in subjects with lower carbohydrate intake, the minor allele was associated with increased obesity..
PMM2	I5012680	Congenital Disorder of Glycosylation Type 1a rs28936415.
PMM2	Rs28936415	rs28936415, also known as c.422G>A, p.Arg141His and R141H, represents a rare variant in the PMM2 gene on chromosome 16.ClinVar and other sources designate this variant as pathogenic for Congenital disorder of glycosylation, type 1a, which is a recessive disorder.
PMS2	Rs1059060	Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMS2	Rs1805323	Modifies the age of onset of poly-glutamine (aka Poly-Q) diseases, such as Huntington disease and multiple spinocerebellar ataxia, according to.
PMS2	Rs267608150	Aka c.736_741delCCCCCTinsTGTGTGTGAAG, p.Pro246Cysfs or p.Pro246Cysfs 3Definitely pathogenic for Lynch syndrome and a founder mutation in Iceland, according to.
PMS2	Rs267608154	Aka c.853_856delACAG and also c.853_856delACAGACAG; both are considered in ClinVar to be pathogenic for Lynch syndrome.
POLD1	Rs201503929	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs397514633	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs397514632	rs397514632, also known as c.1433G>A, p.Ser478Asn or S478N, represents a very rare variant in the POLD1 gene on chromosome 19.The rs397514632 (A) allele is considered to be a high penetrance, dominant mutation significantly increasing ones risk for colorectal cancer, manifesting primarily as tumors occuring predominantly or exclusively in the large bowel, as well as endometrial cancer.
POLD1	Rs201212113	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs201038430	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs199700312	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs201010746	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs146530638	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs143340270	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLD1	Rs1052471	Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLE	Rs138207610	Aka c.844C>T, p.Pro282SerHeterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLE	Rs200403177	Aka c.1336C>T, p.Arg446TrpHeterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLE	Rs483352909	In a 2017 publication, carriers of a rs483352909 (G) mutation had an estimated cumulative risk of developing CRC by age 70 years of 97% (CI: 85%–99%) for males and 92% (CI: 75%–99%) for females.Note: as a C/G mutation oriented on the minus strand in dbSNP, be wary of ambiguous flips when interpreting data from this SNP.
POLG	Rs113994094	23andMe name: i5006725.
POLG	Rs113994095	rs113994095, also known as c.1399G>A, p.Ala467Thr and A467T, represents a mutation in the POLG gene on chromosome 15.Inherited in a recessive manner, the uncommon rs113994095 (A) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).
POLG	Rs113994097	rs113994097, also known as c.2243G>C, p.Trp748Ser and W748S, represents a mutation in the POLG gene on chromosome 15.Inherited in a recessive manner, the uncommon rs113994097 (C) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).Haplotype analysis has demonstrated that the rs113994097 (C) in patients from Finland, Norway, the United Kingdom, and Belgium appears to originate from a common ancient founder.23andMe name: i5006731.
POLG	Rs113994098	rs113994098, also known as c.2542G>A, p.Gly848Ser and G848S, represents a mutation in the POLG gene on chromosome 15.Inherited in a recessive manner, the uncommon rs113994098 (A) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).23andMe name: i5006724.
POLR3B	Rs138249161	The minor (A) allele is a very rare variant, seen only 34 times out of 121358 alleles in ExAC, with 0 homozyotes observed and a MAF of 0.00028.When inherited recessively or as a compound heterozygote, the rs138249161 (A) allele is considered a causative mutation leading to hypomyelinating leukodystrophy, type 8.See information at OMIM 614366.0005.
POLR3B	Rs12300729	A is the ancestral allele and C is the minor allele.
POMC	Rs1009388	Association between variants in the genes for leptin, leptin receptor, and proopiomelanocortin with chronic heart failure in the Czech population.
PON1	Rs662	No association between rs662 and amyotrophic lateral sclerosis was seen in this large meta-analysis.
PON1	Rs854560	No association between rs854560 and amyotrophic lateral sclerosis was seen in this large meta-analysis.
POP1	Rs374828868	Aka NM_001145860.1 (POP1) :c.1748G>A or (p.Gly583Glu) OMIM pathogenic variant.
POP1	Rs769183311	Aka NM_001145860.1 (POP1) :c.1573C>T or (p.Pro525Ser) OMIM pathogenic variant.
POT1	Rs756198077	rs756198077, also known as c.1087C>T and p.Arg363Ter, represents a rare mutation in the POT1 gene on chromosome 7.Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer.
PPARG	Rs4135247	Associated with risk of lung cancer in a Chinese population.
PPARG	Rs4684847	Associated with at least one mortality outcome in a study of ~10,000 individuals.Based on the same study (but a different publication) : Associated with baseline body mass and blood pressure in a study of 9,000+ individuals in Washington County, Maryland.
PPARG	Rs709158	Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study.
PPARG	Rs28936407	NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP.
PPARG	Rs6802898	Associated with type-2 diabetes.
PPARG	Rs2292101	Genome-wide association with diabetes-related traits in the Framingham Heart Study.
PPARG	Rs2197423	Associated with type-2 diabetes.
PPARG	Rs1899951	Associated with risk of lung cancer in a Chinese population.
PPARG	Rs1801282	A ten-year study of 679 male patients with symptomatic coronary artery disease found that rs1801282 (G) carriers had a much lower (10 year) cardiovascular risk, with the hazard ratio estimated to be 0.10 (CI: 0.01-0.70, p = 0.02) for ischemic heart disease and 0.24 for vascular death (CI: 0.08-0.74, p = 0.013) per copy of the allele./ 23andMe blog carriers could be informed that they really need to watch out for high fat in their dietsResponse to Diet and Exercise.
PPARG	Rs17036314	rs17036314 is a SNP in the peroxisome proliferator-activated receptor gamma PPARG gene.In a 4 year study of 479 overweight individuals with impaired glucose tolerance (IGT) who participated in the Finnish Diabetes Prevention Study (DPS), carrying a rs17036314 (C) allele predicted conversion to type-2 diabetes (T2D) after adjustment for baseline fasting glucose (p=0.030).
PPARG	Rs13073869	Associated with risk of lung cancer in a Chinese population Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.
PPARG	Rs1151996	PPARG by dietary fat interaction influences bone mass in mice and humans.
PPP1CB	Rs1114167429	OMIM pathogenic.
PPP2R5D	Rs863225079	PPP2R5D gene, aka c.598G>A, p.Glu200Lys and E200KConsidered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and as well as links on PPP2R5D page.
PPP2R5D	Rs863225081	PPP2R5D gene, aka c.589G>A, p.Glu197Lys, and E197KConsidered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and as well as links on PPP2R5D page.
PPP2R5D	Rs863225082	PPP2R5D gene, aka c.592G>A, p.Glu198Lys and E198KConsidered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and as well as links on PPP2R5D page.
PPT1	Rs137852696	Neuronal ceroid lipofuscinosis (PPT1-related).
PPT1	Rs386833624	Aka c. 526_ 529delATCAThe minor (deletion) allele is reported as pathogenic (when inherited recessively) by one source in ClinVar as pathogenic for a neuronal ceroid lipofuscinosis, among the most common types of neurodegenerative disorders seen in children.
PPT1	Rs137852695	Neuronal ceroid lipofuscinosis (PPT1-related).
PPT1	I5012622	Neuronal ceroid lipofuscinosis (PPT1-related) rs137852696.
PPT1	I5012623	Neuronal ceroid lipofuscinosis (PPT1-related) rs137852695.
PPT1	I5012624	Neuronal ceroid lipofuscinosis (PPT1-related) rs137852700.
PRF1	Rs104894182	C.836G>A (p.Cys279Tyr) 23andMe name: i5000833.
PRF1	Rs28933374	C.1034C>T (p.Pro345Leu).
PRKAG2	Rs28938173	Familial hypertrophic cardiomyopathysee also OMIM 602743.0004.
PRKCH	Rs3783782	One of 42 more SNPs associated with rheumatoid arthritis based on a meta-analysis of 30,000 patients, most with odds ratios of 1.01 - 1.2.
PRKCH	Rs3783799	Association of PRKCH gene with lacunar infarction in a local Chinese Han population.
PRNP	Rs28933385	Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.
PRNP	Rs267606980	rs267606980, G127V appears to protect against kuru.
PRNP	Rs16990018	However, more recent research has indicated that the N171S variant is present in healthy members of numerous populations, reaching penetrance of 11% in Biaka Pygmies and 5% in Jamaicans.
PRNP	Rs11538758	The mutant variant has a low likelihood (p=0.00-0.02), but leads to neurodegeneration after approximately age 50, although symptoms and onset can be highly variable.
PRNP	Rs1799990	rs1799990 (A;G) heterozygotes were significantly overrepresented (age-adjusted odds ratio, 8.47) in 39 individuals with primary progressive aphasia (PPA), a rare condition of unknown cause, compared to 400+ controls.
PROC	Rs121918145	C.629C>T (p.Pro210Leu) 23andMe name: i5003629.
PROC	Rs121918148	Aka c.185A>C (p.Glu62Ala) 23andMe name: i5003626.
PROC	Rs121918154	Aka c.814C>T (p.Arg272Cys) 23andMe name: i5003620.
PROC	Rs146922325	Aka c.565C>T, p.Arg189Trp, R189WThe rs146922325 (T) mutation may be the most frequent pathogenic variant associated with venous thromboembolism in East Asian (including Chinese) populations.
PROC	Rs2069912	The rs2069912 (C) allele is associated with severe sepsis and thus increased risk of death and organ dysfunction based on a study of 100 North American East Asians.
PROC	Rs369504169	: low anticoagulant activity observed for variant.
PRODH	Rs450046	Executive function, neural circuitry, and genetic mechanisms in schizophrenia.
PRODH	Rs2870983	Plos The minor alleles of rs4819756 and rs2870983 were significantly negatively associated with schizophrenia.
PRODH	Rs450046	Also referred to as 1766A/G plos rs450046 was most strongly positively associated with schizophrenia in families.
PRODH	Rs450046	Structural cerebral variations as useful endophenotypes in schizophrenia: do they help construct extended endophenotypes?.
PRODH	Rs450046	Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.
PRODH	Rs4819756	Plos () - The minor alleles of rs4819756 and rs2870983 were significantly negatively associated with schizophrenia.
PROM1	Rs796051882	Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
PROS1	Rs1131691605	Two variants are represented by this SNP: c.1156-1G>A, and, c.1156-1G>T.
PROS1	Rs121918472	Aka c.1501T>C (p.Ser501Pro or S501P) The minor allele of this SNP, rs121918472 (C), leads to a Protein S form known as the Heerlen variant.
PROS1	Rs138925964	rs138925964, also known as c.1528G>A, p.Val510Met and V510M, represents a fairly rare mutation in the PROS1 gene on chromosome 3.Based on exome sequencing, a 2016 report concludes that the rs138925964 (T) allele is an African-descent specific risk factor for venous thromboembolism, also known as VTE.
PRRT2	Rs587778771	Aka c.649dupC (p.Arg217Profs 8) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dystonia (type 10), also known as episodic kinesigenic dyskinesia-1 or paroxysmal kinesigenic dyskinesiasee also OMIM 614386.0001.
PRSS1	Rs111033565	Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
PRSS1	Rs111033566	Populations that are mostly healthy and where the incidence of pancreatitis is quite low).Specifically, numerous publications, ClinVar, and the Pancreas Genetics database all state that the N29I/N29T mutation is dominant and pathogenic (for hereditary pancreatitis).However, allele frequencies reported in dbSNP, taken from ExAC/gnomAD, for the rs111033566 (T) allele are around 26-47%, a frequency too high to be a pathogenic mutation for a rare condition.
PRSS1	Rs144422014	The minor allele, rs144422014 (G), is classified as pathogenic for hereditary pancreatitis in ClinVar, a condition associated with dominant or de novo mutations.
PRSS1	Rs397507441	Aka c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle).
PSEN1	Rs63750083	There is an alternate allele, c.1292C>T, however the medical consequence if any is not currently reported.As described initially in 2006 in families from the Jalisco region of Mexiso, the rs63750083 (A) variant is considered a founder mutation for early-onset Alzheimers disease.
PSEN1	Rs63750218	rs63750218, also known as L392P or Leu392Pro, is a SNP in the presenilin 1 PSEN1 gene.The rare rs63750218 (C) allele is reported as a pathogenic mutation for Alzheimers disease.
PSEN1	Rs63750004	rs63750004, also known as c.428T>A, Ile143Asn and I143D, and also c.428T>C, Ile143Thr or I143T, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63750004 (A) and rs63750004 (C) alleles are both considered pathogenic for early-onset Alzheimers disease in AlzForum.Both are reported in to be a definitely pathogenic mutation.
PSEN1	Rs63750227	C.1225G>A (p.Ala409Thr).
PSEN1	Rs63749962	Inherited as an autosomal dominant, both the rare rs63749962 (C) and rs63749962 (G) alleles are considered pathogenic for early-onset Alzheimers disease according to AlzForum.Reported in to be a definitely pathogenic mutation.
PSEN1	Rs63750231	More information about this mutation can be found in OMIM 104311.0010.This SNP is referred to as i5047571 by 23andMe, and it is reported to assay the A/G form of this SNP (and not the A/C).
PSEN1	Rs63750299	rs63750299, also known as c.518T>G, L173W or Leu173Trp, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63750299 (G) allele is considered pathogenic for early-onset Alzheimers disease according to AlzForum.Reported in to be a definitely pathogenic mutation.
PSEN1	Rs63750307	rs63750307, also known as DellM, I83_M84del, and c.247_252delATCATG, represents a mutation in the PSEN1 gene on chromosome 14.This deletion, located in exon 4 of the PSEN1 gene, is considered to be a dominant mutation pathogenic for early-onset Alzheimers disease.,See also: AlzForum.
PSEN1	Rs63750301	C.791C>T (p.Pro264Leu) Atypical presentation of Alzheimers; see AlzForum.
PSEN1	Rs63750231	rs63750231 consists of at least two known mutations, and so this SNP is also known as both c.839A>C, p.Glu280Ala and E280A, as well as c.839A>G, p.Glu280Gly and E280G.
PSEN1	Rs63749911	rs63749911, also known as c.529T>C, F177L or Phe177Leu, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63749911 (C) allele is considered pathogenic for Alzheimers disease according to AlzForum.Reported in to be a definitely pathogenic mutation.Although Promethease statistics do not currently show evidence that 23andMe is obviously prone to miscalling this mutation, an example of such an error (i.e.
PSEN1	I5047571	rs63750231 early-onset Alzheimers disease.This is 23andMes name for rs63750231.
PSEN1	Rs63749885	rs63749885, also known as H163Y or His163Tyr, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63749885 (T) allele is considered pathogenic for early-onset Alzheimers disease.
PSEN1	Rs63749891	There are two known mutations considered c.833G>T (p.Arg278Ile) Inherited as an autosomal dominant, there are three known mutations in rs63749891 associated with early-onset Alzheimers disease: rs63749891 (T), also known as c.833G>T, p.Arg278Ile or R278I (ClinVar) rs63749891 (C), also known as c.833G>C, p.Arg278Thr or R278T (ClinVar) rs63749891 (A), also known as c.833G>A, p.Arg278Lys or R278K (DIAN).
PSEN1	I5047571	See discussion at rs63750231 The rs63750231 (G) and (C) alleles are both reported to be rare dominant mutations leading to early-onset Alzheimers disease.
PSEN1	I5047580	PSEN1 gene mutation potentially associated with early-onset Alzheimers disease rs63750083.
PSEN1	Rs17125721	They are trying to discover why at least a third of people with Alzheimers disease do not have the an APO E4 allele, and why some people who are homozygotes for APO E4 do not get the disease.
PSEN1	I3002721	PRO436GLN in PSEN1 (i3002721, CC is usual) onset Alzheimers disease rs121917808.
PSEN1	Rs3025786	rs3025786 is a SNP in the presenilin 1 PSEN1 gene.A study of a Spanish case-control sample of 1,183 individuals showed rs3025786 was associated with Alzheimers disease in an ApoE-specific manner: more specifically rs3025786 (C) allele carriers have a decreased AD risk among carriers of the ApoE4 allele.
PSEN1	Rs63749805	rs63749805, also known as c.350C>T, P117L or Pro117Leu, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63749805 (T) allele is considered pathogenic for early-onset Alzheimers disease according to AlzForum.23andMe name for the c.350C>T version of this SNP: i5047529The c.350C>A (p.Pro117Gln) variant of this SNP is reported in to be a definitely pathogenic mutation.
PSEN1	Rs63749824	rs63749824, also known as c.236C>T, A79V or Ala79Val, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63749824 (T) allele is considered pathogenic for late-onset Alzheimers disease.Reported in to be a definitely pathogenic mutation.
PSEN1	Rs28930977	Dementia, SPASTIC PARAPARESIS, APRAXIA,.
PSEN2	Rs63750110	rs63750110, also known as c.1316A>C, D439A or Asp439Ala, represent a very rare variant in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs63750110 (C) allele was reported in 2001/2002 as causative for early-onset Alzheimers disease; see.More recent studies (in 2015 and 2016) are casting doubt on the penetrance of this mutation.
PSEN2	Rs775145486	rs775145486, also known as c.524C>G, S175C or Ser175Cys, is a SNP in the presenilin 2 PSEN2 gene.Reported in the AlzForum database as pathogenic for Alzheimers disease, based on the 2010 publication.Note that the 23andMe name for this mutation is i5047676.
PSEN2	Rs755101354	Aka c.482A>G, p.Lys161Arg rs755101354, also known as c.482A>G, K161R or Lys161Arg, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs755101354 (G) allele is considered causative for early-onset Alzheimers disease according to two publications cited in AlzForum including.The mutation is also considered possibly pathogenic for early-onset Alzheimers disease in.
PSEN2	Rs63750812	rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene.Inherited as an autosomal dominant, the rare rs63750812 (A) allele is reported to be causative for early-onset Alzheimers disease.
PSEN2	Rs63750666	However, a sibling who shared this mutation with an Alzheimers patient did not show signs of early-onset disease, so this mutation may have reduced penetrance.
PSEN2	Rs63750215	rs63750215, also known as c.422A>T, N141I or Asn141Ile, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs63750215 (T) allele is considered causative for early-onset Alzheimers disease; see.
PSEN2	Rs63750197	rs63750197, also known as S130L or Ser130Leu, is a SNP in the presenilin 2 PSEN2 gene.Although based on small numbers of patients, the rare rs63750197 (T) allele has been reported to be associated with both Alzheimers disease and a form of dilated cardiomyopathy., However, the Alzheimer pathogenicity is considered unclear, and while the evidence for involvement with dilated cardiomyopathy evidence is strong, the condition has incomplete penetrance.
PSEN2	Rs63750048	rs63750048, also known as c.254C>T, A85V or Ala85Val, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs63750048 (T) allele is reported to lead to an atypical early-onset Alzheimers disease.
PSEN2	Rs533813519	Aka c.505C>A, p.His169Asn or H169NThe rare rs533813519 (C) mutation in the PSEN2 gene was observed in a female Korean patient with early-onset Alzheimers disease and was considered to be associated and most likely inherited in an autosomal dominant manner.
PSEN2	Rs61761208	rs61761208, also known as c.421A>T, N141Y or Asn141Tyr, is a mutation in the presenilin 2 PSEN2 gene.The minor allele is reported as pathogenic for early-onset Alzheimers disease in the AlzForum database, based on a 2014 publication.
PSEN2	Rs367855127	rs367855127, also known as c.712C>T, p.Leu238Phe and L238F, is a variant in the PSEN2 gene on chromosome 10.The rs367855127 (T) variant was found in a single individual diagnosed with early-onset Alzheimers disease and with no family history of the disorder.
PSEN2	Rs28936380	rs28936380, also known as T122R or Thr122Arg, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs28936380 (G) allele is considered causative for early-onset Alzheimers disease.23andMe calls this i5007545.
PSEN2	Rs28936379	rs28936379, also known as c.715A>G, M239V or Met239Val, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs28936379 (G) allele is considered causative for early-onset Alzheimers disease.This mutation is also reported as pathogenic in ClinVar, AlzForum and listed as definitely pathogenic in.
PSEN2	Rs200754713	rs200754713, also known as c.692A>G, Y231C or Tyr231Cys, is a SNP in the presenilin 2 PSEN2 gene.The rare rs200754713 (G) allele is considered pathogenic as an autosomal dominant for Frontotemporal dementia; a patient with this allele was described as exhibiting behavioral abnormalities and language impairment.. See also AlzForum.
PSEN2	Rs1800680	A SNP in the PSEN2 gene.
PSEN2	Rs150400387	The rs150400387 (T) allele is reported in a 49 year old Korean patient as being pathogenic, as also predicted by structural calculations.However, the AlzForum database, which does tabulate at least 4 individuals with Alzheimers carrying this mutation, concludes that the pathogenicity remains unclear.
PSEN2	Rs63749884	rs63749884, also known as c.717G>A, M239I or Met239Ile, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs63749884 (A) allele is considered causative for early-onset Alzheimers disease; see.
PTEN	Rs1057520900	PTEN gene, c.675T>G (p.Tyr225Ter). pathogenic in ClinVar for PTEN hamartoma tumor syndromenote c.675T>C is likely to be a benign variant according to ClinVar.
PTEN	Rs1060500116	Note that the truncation observed in a patient suspected of having Cowden syndrome in this publication was not a c.176C>G mutation (it was c.176C>A), but both mutations result in a stop codon and a truncated protein.23andMe name: i6017222.
PTPN11	Rs12229892	Associations of a PTPN11 G/A polymorphism at intron 3 with Helicobactor pylori seropositivity, gastric atrophy and gastric cancer in Japanese.
PTPN22	Rs3761935	Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.
PTPN22	Rs3761935	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
PTPN22	Rs33996649	The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples.
PTPN22	Rs2476601	This important SNP, located in the PTPN22 gene and also known as R620W, C1858T, or 1858C>T, may influence risk for multiple autoimmune diseases, such as Rheumatoid Arthritis, Type-1 diabetes, Autoimmune thyroiditis, and Systemic lupus erythematosus.==Overview==.
PTPN22	Rs1310182	Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.
PTPN22	Rs1310182	Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.
PTPN22	Rs1310182	Comparison of the power of haplotype-based versus single- and multilocus association methods for gene x environment (gene x sex) interactions and application to gene x smoking and gene x sex interactions in rheumatoid arthritis.
PTPN22	Rs12730735	Comparison of the power of haplotype-based versus single- and multilocus association methods for gene x environment (gene x sex) interactions and application to gene x smoking and gene x sex interactions in rheumatoid arthritis.
PTPN22	Rs12730735	Modeling the effect of PTPN22 in rheumatoid arthritis.
PTPN22	Rs12730735	Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.
PTPN22	Rs12730735	Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.
PTPN22	Rs12730735	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
PTPN22	Rs1310182	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
PTPRC	Rs17612648	No association between transmembrane protein-tyrosine phosphatase receptor type C (PTPRC) exon A 77C>G transversion and liver transplant rejection.
PTPRQ	Rs147541734	The rare allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.
PTPRQ	Rs190166486	The rare allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.
PTPRQ	Rs61729287	The rare (T) allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.
PTPRQ	Rs749210663	The rare (deletion) allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.
PYGM	Rs116987552	Aka c.148C>T, p.Arg50Ter, R50 and R50X; previously referred to as R49XThis (rare) mutation in the PYGM gene is generally considered to be the most frequent mutation leading to McArdle disease, a recessively inherited condition.
PYGM	Rs119103252	PYGM gene, c.1628A>C, p.Lys543Thr or K543T23andMe name: i5005800.
QDPR	Rs744731	Neurotransmission and bipolar disorder: a systematic family-based association study.
RAB27A	Rs104894497	Aka c.259G>C (p.Ala87Pro) Reported in ClinVar as potentially pathogenic for Griscelli syndrome, while a 2016 publication finds heterozygotes associated with familial hemophagocytic lymphohistiocytosis.23andMe name: i5003825.
RAD50	Rs2240032	Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
RAD50	Rs2244012	Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.
RAPSN	Rs104894299	The N88K mutation is the most common one leading, when inherited recessively, to congenital myasthenic syndrome.
RAPSN	Rs45547231	rs45547231, also known as c.193-15C>A, is an intronic variant in the RAPSN gene on chromosome 11.One 2006 publication concludes based on patient and functional data that this variant is a splice mutation, which when combined with another RAPSN mutation, can lead to the recessively inherited condition known as congenital myasthenic syndrome.
RB1	Rs2227311	This SNP has been linked to another SNP, rs4151620 which has been linked to ovarian cancer.More specifically: rs2227311 (C) alleles were found to be perfectly correlated to rs4151620 (G) alleles, and carriers of two rs4151620 (G) alleles have a 5X reduced risk of developing ovarian cancer compared to carriers of two rs4151620 (C) alleles, in a survey of ~5,000 women from the US, UK, and Denmark.
RB1	Rs2854344	Associated with breast cancer risk and ovarian cancer More specifically: carriers of two rs2854344 (A) alleles have a 25% reduced risk of developing ovarian cancer compared to carriers of two rs2854344 (G) alleles, in a survey of ~5,000 women from the US, UK, and Denmark.
RB1	Rs2854344	Showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer.
RB1	Rs4151620	rs2854344 has been reported previously to be associated with breast cancer risk.
RELN	Rs7341475	A total of 2,274 cases of schizophrenia were studied, resulting in an association between rs7341475, exclusively in women.
RELN	Rs7341475	Based on all populations the estimated relative risk for women carrying the common (G;G) genotype is 1.58 (p = 8.8 x 10 (<sup>-7</sup>).This finding was replicated in a large independent Ashkenazi Jewish collection (721 cases, 259 female; 1455 controls, 834 female), with confirmation that it applies to both schizophrenia and schizoaffective disorder.
RELN	Rs3914132	Each C allele at rs3914132 decreases the likelihood of developing otosclerosis, which can cause hearing loss.
RELN	Rs607755	rs607755 and rs2229874 appear to relate to females and Alzheimers disease.
RET	Rs17158558	A complex pattern of mutations involving rs17158558 (T) and other mutations simultaneously occurring may - or with greater odds, actually, may not - lead to Hirschsprung disease.
RET	Rs1799939	This SNP has been reported to be associated with primary vesicoureteric reflux (pVUR) patients in Quebec, but it was not found in a study of 221 unrelated index cases of pVUR from the Irish population or in 190 full siblings of 160 of the index cases.
RET	Rs1800860	Since individuals with lower nephron numbers have an increased lifetime risk for essential hypertension or renal insufficiency, this may have clinical consequences in adult life (but this remains to be proven).
RET	Rs2435357	The risk allele (in dbSNP orientation) is rs2435357 (A), with greater affect in males.
RET	Rs2506004	Variants in RET associated with Hirschsprungs disease affect binding of transcription factors and gene expression.
RET	Rs2742234	Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprungs disease in the Chinese population.
RET	Rs3026785	Associated with protection from Hirschsprung diseaseSee OMIM 164761.0052.
RHCE	Rs676785	Rh C/c blood group.
RNASEL	Rs486907	This SNP is also known as R462Q or Arg462Gln.In a study of prostate cancer patients, rs486907 (A;G) heterozygotes were calculated to be at 1.5x increased risk, and rs486907 (A;A) homozygotes 2x risk (p=0.007).This SNP was also associated with hereditary-prostate-cancer (HPC) predisposition with an odds ratio of 1.97 (p=0.07) in a study of 116 affected Finnish families.See also:.
RNASEL	Rs627839	rs627839 is a SNP that tags the RNASEL gene actually located within the hereditary prostate cancer 1 HPC1 gene.This SNP is one of five SNPs reported to be useful in a SNP set defining the risk of dying from prostate cancer among patients with the disease; see gs242 and gs243.
RNASEL	Rs3738579	Although statistics were not reported per genotype, a combination of data from all three cancer forms over all genotypes provided strong statistical evidence for rs3738579 as a cancer marker, with a p-value of 4.43x10 (-5).Note that the research cited above was published over a decade ago, and there has been no follow-up or replication to our knowledge.
RORA	Rs12912233	rs12912233 is a SNP associated with tbe RAR-related orphan receptor A RORA gene, encoding a protein potentially involved in circadian rhythm.A genome-wide association scan and an accompanying meta-analysis concluded that the strongest association signals for trait depression were for this SNP (p= 6 x 10e-7).
RORA	Rs754499	Suspected of reproducibility problems based on end user analysis rs11149566 rs4458717 rs4660646 rs754499.
RPE65	Rs121918844	This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening panel.aka c.361dupT; Leber congenital amaurosis 2?.
RTEL1	Rs6010620	rs6010620 &#8217;s association with subphenotypes of AD was examined in this study, and the SNP showed significant protective effect for sporadic AD (Pgenotype = 0.01; PBonferroni = 0.006; OR = 0.60; 95% CI 0.43&#8211;0.83).
RTEL1	Rs6010620	EGFR is overexpressed in skin lesions of AD patients and inhibition of its signaling induces dysregulated chemokine profiles that augment skin inflammation.
RTEL1	Rs6010620	It has been shown that mRNA expression of serum TNFRSF6B in AD patients are higher than those in healthy individuals and control subjects with non-atopic inflammatory diseases.
RTEL1	Rs6010620	Taken together, these results indicate that TNFRSF6B and ZGPAT are indeed plausible causal genes for AD, while further fine mapping and functional studies are still needed before an unequivocal conclusion can be made on the exact susceptibility genes at 20q13.33.----/ 23andMe blog rs6010620 G 1.28 Glioma.
RTEL1	Rs6010620	rs6010620 showed evidence for AD association in both the combined Chinese population (minor/risk allele G; P = 3.00 &#215; 10-8; OR = 1.17) and in the German cohort (minor allele A; risk allele G; P = 2.87 &#215; 10-5; OR = 0.80).The association was subsequently validated in a two-stage GWAS meta-analysis carried out later (P = 0.002; OR = 1.09; 95% CI 1.03&#8211;1.15).
RTEL1	Rs6010620	 rs6010620  is a SNP associated with atopic dermatitis (AD).
RTEL1	Rs6010620	Also known as eczema, AD is one of the most common chronic inflammatory skin disorders with a prevalence estimated up to 20% in children and 3% in adults.
RTEL1	Rs4809219	Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
RTEL1	Rs201540674	Aka c.2402G>A (p.Arg801His or R80H) Note that this variant is also called c.3791G>A (p.Arg1264His or R1264H) when numbering using a different reference sequence is used; for an example, see the 2014 paper that concluded that this variant is likely to be a founder mutation in Ashkenazi Jews and should be included in carrier screens./ news article from January 2019 discusses the search for a cure.
RTEL1	Rs6010620	rs6010620 &#8217;s association with AD was first identified in a genome-wide association study (GWAS) published in 2011, involving 491,905 autosomal SNPs in 1,012 cases and 1,362 controls from southern China followed by two replication studies &#8212; one with an additional 3,624 cases and 12,197 controls of Chinese Han ethnicity, the other had 1,806 cases and 3,256 controls from Germany.
RYR1	Rs121918594	rs121918594, aka p.Arg2458His or p.R2458H, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name: i5000020 Mutations in RYR1 in malignant hyperthermia and central core disease.
RYR1	Rs193922878	rs193922878, aka p.Leu4838Val or p.L4838V, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i5000024.
RYR1	Rs193922816	rs193922816, aka p.Arg2454Cys or p.R2454C, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
RYR1	Rs193922807	rs193922807, aka p.Gly2375Ala or p.G2375A, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i5000017.
RYR1	Rs193922802	rs193922802, aka p.Ala2350Thr or p.A2350T, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i5000016.
RYR1	Rs193922772	rs193922772, aka c.1841G>T, p.Arg614Leu or p.R614L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
RYR1	Rs193922770	rs193922770, aka p.Arg552Trp or p.R552W, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i6017835.
RYR1	Rs193922747	rs193922747, aka p.Cys35Arg or p.C35R, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i6017748.
RYR1	Rs121918596	rs121918596, aka p.Glu2347del, is a deletion SNP in the RYR1 gene associated with malignant hyperthermia.
RYR1	Rs121918593	rs121918593, aka p.Gly2434Arg or p.G2434R, is a SNP in the RYR1 gene leading to susceptibility to malignant hyperthermia when heterozygous.
RYR1	Rs118192172	Note, however, that although this mutation is listed in OMIM plus at least two consensus lists of causative mutations for MH, there is a report of a 62 year old female carrying this variant who had no family or personal history of MH, despite having surgery with general anesthesia thrice.
RYR1	Rs118192177	rs118192177, aka p.Thr2206Met or p.T2206M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name for c.6617C>T: i6017606.
RYR1	Rs118192122	rs118192122, aka p.Arg2454His or p.R2454H, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
RYR1	Rs118192124	Aka c.7354C>T (p.Arg2452Trp or R2452W) 23andMe name: i6017785.
RYR1	Rs118192161	rs118192161, aka p.Arg163Cys or p.R163C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name: i6017661 Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
RYR1	Rs118192163	rs118192163, aka p.Arg2163His or p.R2163H, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name: i3002773.
RYR1	Rs121918592	rs121918592, aka c.1021G>A, c.1021G>C, p.Gly341Arg or p.G341R, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name for c.1021G>A: i5900460.
RYR1	Rs118192175	rs118192175, aka p.Arg2163Cys or p.R2163C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
RYR1	Rs118192176	rs118192176, aka p.Val2168Met or p.V2168M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name: i5000015.
RYR1	Rs118192170	rs118192170, aka p.Ile4898Thr or p.I4898T, is a SNP in the RYR1 gene associated with both malignant hyperthermia and central core disease when heterozygous.23andMe name: i6017636.
RYR2	Rs10925388	Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
RYR2	Rs1933129	Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
RYR2	Rs2050656	Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
RYR2	Rs34967813	Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
RYR2	Rs41315858	Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.
RYR2	Rs41315858	Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
SARDH	Rs140559739	rs140559739, also known as R514X, is a variant in the sarcosine dehydrogenase SARDH gene that has been reported to cause sarcosinemia, a condition brought about through autosomal recessive inheritance.In dbSNP orientation for this SNP, the variant (rare) allele is rs140559739 (A).
SBF2	Rs1867137	/ 23andMe blog rs1867138 (T;T) or rs1867137 (G;G) were approximately one inch taller than rs1867138 (C;C) rs9834312 (G;G) or rs939882 (G;G) increased height.
SBF2	Rs10734652	rs10734652 is a SNP in the SET binding factor 2 SBF2 gene.Based on a study of 1000+ Caucasians and 2,000+ Chinese, rs10734652 was suggestively (p=0.07) associated with height in Caucasians, as well as in Chinese subjects (p=0.048).
SBF2	Rs1867138	/ 23andMe blog rs1867138 (T;T) or rs1867137 (G;G) were approximately one inch taller than rs1867138 (C;C) rs9834312 (G;G) or rs939882 (G;G) increased height Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
SCARB1	Rs9919713	Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study.
SCARB1	Rs74830677	In a total of 852 individuals with high HDL-C compared to 1,156 with low HDL-C, the rs74830677 (T) allele was significantly over-represented and, surprisingly, it was also associated with increased risk for coronary heart disease (odds ratio 1.79, p<0.0001).
SCARB1	Rs5888	Subgroup analysis indicated that the odds ratio for exudative forms of ARMD was even higher (3.6; CI: 1.7-7.6, p>0.0015) for rs5888 (C;T) heterozygotes.
SCARB1	Rs4765623	Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.
SCN2A	Rs121917749	rs121917749, also known as c.3988C>T, p.Leu1330Phe and L1330F, is a rare variant in the SCN2A gene on chromosome 2.The rs121917749 (T) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.
SCN2A	Rs121917750	rs121917749, also known as c.4687C>G, p.Leu1563Val and L1563V, is a rare variant in the SCN2A gene on chromosome 2.The rs121917750 (G) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.
SCN3A	Rs774195502	Aka NM_006922.3 (SCN3A) :c.1070G>A or (p.Arg357Gln) OMIM pathogenic variant.
SCN3A	Rs755440336	Aka NM_006922.3 (SCN3A) :c.2443G>A or (p.Asp815Asn) OMIM pathogenic variant.
SCN4A	Rs121908548	As reported in two families, the clinical description can encompass potassium-aggravated myotonia without muscle weakness and/or cramps in the fingers, toes, and eyelids.
SCN4A	Rs774452124	Aka c.4324G>A (p.Val1442Met) Possible association of minor allele of this SCN4A gene variant with predisposition to Sudden Infant Death Syndrome, based on exome analysis.
SCN4A	Rs121908548	rs121908548, also known as c.4765G>A, p.Val1589Met and V1589M, represents a rare mutation in the SCN4A gene on chromosome 17.Based on OMIM, ClinVar designates the mutant allele as pathogenic for paramyotonia congenita, a form of potassium aggravated myotonia that is dominantly inherited.
SCN5A	Rs12053903	/ 23andMe blog Influences QT interval.
SCN9A	Rs73969684	However, three publications describe several patients, most of whom are children, with this mutation and pain-related disorders.,,.
SCN9A	Rs4369876	There are at least two publications in which the complex allele carrying both variants is reported to be associated with congenital insensitivity to pain (CIP) and/or lower post-operative pain following surgery.However, there is also a report of a patient carrying this complex allele who had a small fiber neuropathy and increased pain.
SCN9A	Rs12478318	There are at least two publications in which the complex allele carrying both variants is reported to be associated with congenital insensitivity to pain (CIP) and/or lower post-operative pain following surgery.However, there is also a report of a patient carrying this complex allele who had a small fiber neuropathy and increased pain.
SCN9A	Rs121908910	rs121908910, also known as c.2986C>T, p.Arg996Cys and R996C, is a rare mutation in the SCN9A gene on chromosome 2.Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
SCN9A	Rs121908916	rs121908916, also known as c.829C>T, p.Arg277Ter and R277X, is a rare mutation in the SCN9A gene on chromosome 2.Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
SCN9A	Rs121908908	rs121908908, also known as c.1376C>G, p.Ser459Ter and S459X, is a rare mutation in the SCN9A gene on chromosome 2.Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
SCN9A	Rs121908917	rs121908917, also known as c.984C>A, p.Tyr328Ter and Y328X, is a rare mutation in the SCN9A gene on chromosome 2.Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
SDHB	Rs111430410	SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.
SDHB	Rs74315366	A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
SDHB	Rs74315366	Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
SDHB	Rs74315366	The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
SDHD	Rs11214077	Aka c.149A>G, p.His50Arg or H50RClassified as benign in ClinVar.
SDHD	Rs34677591	The cancers most often mentioned in association with G12S are paragangliomas and pheochromocytomas.
SEPSECS	Rs267607036	SEPSECS gene mutation, known as c.1001A>G, p.Tyr334Cys or Y334C; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D.
SEPSECS	Rs773876739	SEPSECS gene mutation, known as c.1466A>T, p.Asp489Val or D489V; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D.
SEPSECS	Rs267607035	SEPSECS gene mutation, known as c.715G>A, p.Ala239Thr or A239T; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D.
SERPINA1	Rs7151526	rs7151526 is an SNP in the 5UTR of the SERPINA1 (alpha-1-antritrypsin/AAT) gene, with potential effects on AAT activity.
SERPINA1	Rs11832	Finds no association between rs11832 and pulmonary emphysema.
SERPINA1	Rs121912713	The rs121912713 (G) allele represents a dominant mutation occurring at the active site of the alpha-1 antitrypsin (AAT) protein, in which AAT becomes a potent inhibitor of thrombin and factor XI (rather than of elastase), resulting in a bleeding disorder.
SERPINA1	Rs1303	Finds no association between rs1303 and pulmonary emphysema.
SERPINA1	Rs17751769	Finds no association between rs17751769 and pulmonary emphysema.
SERPINA1	Rs1802959	Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
SERPINA1	Rs28929474	Genetic polymorphisms and susceptibility to lung disease.
SERPINA1	Rs28931568	Homozygotes, are at high risk for emphysema based on the finding of this variant in an affected African-American family.
SERPINA1	Rs28931569	Homozygotes, are at high risk for emphysema.
SERPINA1	Rs61761869	If true, this would be considered an SERPINA1 genotype associated with alpha1-antitrypsin deficiency.
SERPINA1	Rs6647	The rs6647 (T) allele encodes the more common (in Caucasians) Pi-M1V (for Val) allele; rs6647 (C) encodes the Pi-M1A (for Ala) allele, thought to be the ancestral/original allele in humans but now somewhat less common than Pi-M1V.
SERPINC1	Rs121909547	Aka c.235C>T (p.Arg79Cys or R79C). also c.235C>A (p.Arg79Ser or R79S) The Arg79Cys mutation was reported to be relatively prevalent among Korean venous thromboembolism patients screened for thrombophilia.
SERPINC1	Rs121909567	rs121909567, also known as c.391C>T, p.Leu131Phe and L131F, represents a rare mutation in the SERPINC1 gene on chromosome 1.Mutations in the SERPINC1 gene leading to antithrombin III deficiency are normally dominantly inherited, but rs121909567 (T) may be a recessively inherited mutation, based on comments in both OMIM and.
SERPINC1	Rs121909569	Aka c.442T>C (p.Ser148Pro or S148P) The Ser148Pro mutation was reported to be relatively prevalent among Korean venous thromboembolism patients screened for thrombophilia.
SERPINC1	Rs201381904	Aka c.883G>A (p.Val295Met or V295M) A 2017 study of 1,304 Chinese venous thromboembolism (VTE) patients and 1,334 healthy controls found a >10X higher risk among rs201381904 (T) carriers, as oriented in dbSNP, despite having normal antithrombin levels and anticoagulant activity.
SERPINC1	Rs2227589	Gene variants associated with deep vein thrombosis.Updated analysis of gene variants associated with deep vein thrombosis. rs2227589 in SERPINC1 (risk allele frequency, 0.10) OR 1.29 (95% CI, 1.10-1.49) associated with plasma anti-FXa activity and antithrombin levels: carriers of the A allele had slightly but significantly lower anticoagulant activity and levels than GG subjects (97.0+/-7.3% vs. 94.6+/-8.4%; p=0.032; 99.5+/-5.8% vs. 94.8+/-5.6%; p=0.001; respectively).
SERPINE1	Rs2227692	rs2227692, also known as c.1162+162C>T, is a SNP in the SERPINE1 gene.A study of 612 Korean patients with gastric cancer concluded that the rs2227692 C/T and T/T genotypes had 1.6x greater risk for diffuse gastric cancer than the C/C genotype (p =.00084).
SERPINE1	Rs34857375	Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
SERPINE1	Rs6092	Plasminogen-activator inhibitor-1 polymorphisms are associated with obesity and fat distribution in the Quebec Family Study: evidence of interactions with menopause.
SERPINE1	Rs6092	Contribution of genetic and metabolic syndrome to omental adipose tissue PAI-1 gene mRNA and plasma levels in obesity.
SERPINF1	Rs1136287	rs1136287, also known as Met72Thr, is a SNP in the PEDF gene.Analysis of 86 Taiwanese Chinese patients with wet age related macular degeneration (ARMD) found the (T) allele to be more frequent in patients than in controls (50% vs 31%; p =.0005).
SERPING1	Rs28940870	rs28940870 (A) is also known as c.1396C>A, p.Arg466Ser, R466S, Arg444Ser and R444S; rs28940870 (T) is also known as c.1396C>T, p.Arg466Cys, R466C, Arg444Cys and R444C.23andMe name for c.1396C>A: i6018367.
SERPING1	Rs281875170	NM_000062.2 (SERPING1) :c.550G>A (p.Gly184Arg) 23andMe name: i6018380.
SERPING1	Rs121907948	NM_000062.2 (SERPING1) :c.1397G>C (p.Arg466Pro) andNM_000062.2 (SERPING1) :c.1397G>A (p.Arg466His) 23andMe name for c.1397G>A: i5000468.
SERPING1	Rs112565881	NM_000062.2 (SERPING1) :c.1249+1G>T23andMe name: i5000464.
SERPING1	Rs1005510	Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.
SETD1A	Rs61744449	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30980962_C/T and also as p.R990X.
SETD1A	Rs754369980	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30977316_G/GC and also as p.G705fs.
SETD1A	Rs755127868	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30992057_CAG/C and also as c.4582-2delAG>-.
SETD1A	Rs761709838	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30970178_T/TGATG and also as p.Y42fs.
SETD1A	Rs762131795	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30977405_CAG/C and also as p.Q735fs.
SETD1A	Rs770913157	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.referred to in the cited paper as 16:30977140_C/G and also as p.Y646X.
SETD1A	Rs869312829	Also known as c.518-2A>G Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
SETD1A	Rs869312830	Also known as c.1272delC and p.Tyr425Thrfs Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
SETD1A	Rs869312831	Also known as c.2209C>T and p.Gln737Ter Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
SGSH	Rs770947426	rs770947426, also known as c.1080delC, represents a rare mutation in the SGSH gene on chromosome 17.Although still rare, the c.1080delC mutation is considered the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
SGSH	Rs7503034	Benign variant.
SGSH	Rs104894635	rs104894635, also known as c.734G>A, p.Arg245His and R245H, represents a rare mutation in the SGSH gene on chromosome 17.Although still rare, the R245H mutation is considered the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
SGSH	Rs104894637	rs104894637, also known as c.197C>G, p.Ser66Trp and S66W, represents a rare mutation in the SGSH gene on chromosome 17.Although still rare, the S66W mutation is considered one of the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
SGSH	Rs144143780	rs144143780, also known as c.1139A>G, p.Gln380Arg and Q380R, represents a rare mutation in the SGSH gene on chromosome 17.Although still rare, the Q380R mutation is considered one of the most frequent pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
SH2B3	Rs148636776	Aka E395KBased on ACMG guidelines, originally classified as of uncertain status for familial erythrocytosis type 1 and essential thrombocythemia,. in, this variant appears to have some effect (see paper for discussion) and so it is denoted as pathogenic.
SH2B3	Rs3184504	Associated with type-1 diabetes/ 23andMe blog coronary artery disease and heart attackSNP Risk Version Effect rs646776 T 1.19 rs17465637 C 1.14 rs1746048 C 1.17 rs6725887 C 1.17 rs11206510 T 1.15 rs3184504 T 1.13 rs2306374 C 1.15 rs3782886 C 1.44/ 23andMe blog blood pressure Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.|OA=1}} Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?.
SH2B3	Rs3184504	Genetics of coronary artery disease: focus on genome-wide association studies.
SH2D1A	Rs111033623	Aka c.163C>T (p.Arg55Ter) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar.
SH2D1A	Rs111033624	Aka c.95G>C (p.Arg32Thr) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar23andMe name: i5003046.
SH2D1A	Rs111033626	Aka c.302C>T (p.Pro101Leu) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar23andMe name: i5900495.
SH2D1A	Rs111033627	Aka c.203C>T (p.Thr68Ile) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar23andMe name: i5003044.
SH2D1A	Rs111033630	Aka c.164G>T (p.Arg55Leu) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar23andMe name: i5003042.
SHANK3	Rs797044936	rs797044936, also known as c.3679dupG or A1227Gfs 69, represents a rare mutation in the SHANK3 gene on chromosome 22.The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.
SHANK3	Rs767058690	rs767058690, also known as c.3032G>T, p.Gly1011Val and G1011V, represents a rare mutation in the SHANK3 gene on chromosome 22.The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.
SHOX	Rs137852552	Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
SIX5	Rs80356461	Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
SLC12A3	Rs2289116	Associated with diabetic nephropathy and type-2 diabetes in a Japanese population.
SLC12A3	Rs138977195	SLC12A3 gene, c.2221G>A (p.Gly741Arg) Minor allele is pathogenic for Familial hypokalemia-hypomagnesemia (Gitelman syndrome). recessively inherited.
SLC12A6	I5012575	Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN) rs121908428.
SLC12A6	Rs121908428	rs121908428, also known as R675X, is a SNP in the SLC12A6 gene.The risk allele rs121908428 (T) accounts for most of the ACCPN mutations seen in French-Canadian populations.
SLC12A6	Rs35583475	Aka c.963C>A (p.Tyr321Ter or Y321X) and also c.963C>T (p.Tyr321=). the latter is annotated in ClinVar as likely to be benign, while the former has been reported as likely to be pathogenic for Andermann syndrome, a recessively inherited disorder.Note that the ref and alt alleles that are tested by both Ancestry and 23andMe are G and A, respectively, which means they represent the benign c.963C>T variant, since the alleles are reported by these companies based on the forward/plus strand, whereas the cDNA for the SLC12A6 gene is reported on the reverse/minus strand.
SLC14A1	Rs78242949	The variant, rs78242949 (C), leads to a lack of the Jk Kidd blood group antigen, and if two copies of it are inherited, the result is a Jk-null variant for that blood group, known as the Finnish type null variant.
SLC17A5	I5012634	Disease rs80338794.
SLC18A2	Rs60912143	Together with another SNP denoted a reduced transcription activity haplotype of SLC18A2/VMAT2.
SLC1A2	Rs1042113	Publicly Available Single Nucleotide Polymorphisms in Genes Possibly Susceptible to Antiepileptic Drug Resistance in Healthy KoreansDevelopment of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
SLC22A4	Rs1050152	rs1050152, a SNP in the SLC22A4 gene known as L503F, has been associated with an autoimmune disease, in this case, Crohns disease, odds ratio = 2.1 (CI = 1.31&#226;&#8364;&#8220;3.39, p = 0.002), based on a study of 203 cases and 200 controls.
SLC22A4	Rs11568506	rs1800925 and/or rs11568506 related to psoriasis and/or Crohns disease ?.
SLC22A4	Rs2073838	rs2073838 and rs3792876 replicated for rheumatoid arthritis in Japanese, but not Caucasian populations.
SLC22A5	Rs17622208	MAST3: a novel IBD risk factor that modulates TLR4 signaling.
SLC22A5	Rs2631367	rs2631367, a SNP in the promoter region of the SLC22A5 gene, has been associated with an autoimmune disease, in this case, Crohns disease, odds ratio = 2.1 (CI = 1.31&#226;&#8364;&#8220;3.39, p = 0.002), based on a study of 203 cases and 200 controls.
SLC24A4	Rs12590273	Alzheimers disease polygenic hazard score.
SLC24A5	Rs1426654	), African, or East Eurasian, based on a 2009 study.The 3 SNPs are: rs1426654 rs2555364 rs16960620 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
SLC24A5	Rs16960620	This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study.The 3 SNPs are: rs1426654 rs2555364 rs16960620.
SLC24A5	Rs2470102	Skin color.
SLC24A5	Rs2555364	This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study.The 3 SNPs are: rs1426654 rs2555364 rs16960620.
SLC25A12	Rs2292813	Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk.
SLC25A12	Rs2292813	Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism.
SLC25A12	Rs6716901	In a study size of 117 Caucasians with Asperger syndrome and 426 controls Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome found association of this SNPs minor allele (A) in SLC25A12 gene with Asperger syndrome.
SLC25A12	Rs2292813	Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.
SLC25A12	Rs2292813	Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.
SLC25A13	Rs121908532	SLC25A13 gene, c.1763G>A (p.Arg588Gln) 23andMe name: i5007232.
SLC25A13	Rs80338727	Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
SLC26A2	Rs104893915	rs104893915, also known as c.835C>T, p.Arg279Trp and R279W, is a mutation in the SLC26A2 gene on chromosome 5.The rare rs104893915 (T) variant, when inherited recessively or as a compound heterozygote, has been considered a causative mutation for several conditions, including: Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia, type 4See OMIM 606718.0002 for more information.
SLC26A4	Rs111033205	Screening of SLC26A4 (PDS) gene in Pendreds syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
SLC26A4	Rs111033244	rs111033244, also known as c.1151A>G, p.Glu384Gly and E384G, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
SLC26A4	Rs111033220	rs111033220, also known as c.1229C>T, p.Thr410Met and T410M, represents a rare mutation in the SLC26A4 gene.Inherited recessively, this variant is considered pathogenic for Pendred Syndrome, manifest as hearing loss and enlarged vestibular aqueduct syndrome.
SLC26A4	Rs111033199	rs111033199, also known as V138F, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
SLC26A4	I5000003	Hearing lossPendred Syndrome rs111033244.
SLC26A4	I5012616	Hearing lossPendred Syndrome rs80338848.
SLC26A4	I5000696	Hearing lossPendred Syndrome rs111033307.
SLC26A4	I5012618	Hearing lossPendred Syndrome rs28939086.
SLC2A1	Rs267607059	rs267607059, also known as c.1402C>T, p.Arg468Trp and R468W, represents a rare variant in the SLC2A1 gene on chromosome 1.Although SLC2A1 mutations are more commonly associated with dominantly inherited GLUT1 deficiency, rs267607059 has been found to be recessively inherited.This is based on several studies, including one based on an index patient and her asymptomatic younger sister (who was apparently too young to show symptoms).
SLC2A1	Rs267607059	Patients heterozygous for other SLC2A1 mutations experience milder symptoms.,.
SLC2A1	Rs75485205	SLC2A1 gene, c.1296C>A (p.Tyr432Ter).
SLC2A9	Rs12498742	Each copy of the minor (G) allele appears to confer reduced risk for gout based on combined data from over 140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), replicating an association reported earlier for a linked SNP in this gene.
SLC2A9	Rs3733591	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
SLC30A8	Rs13266634	rs13266634 (C) allele is associated with younger age of onset of type-1 diabetes This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese)./ spitotoon associated with blood sugar levels (glycated hemoglobin levels) rs13266634 (C).
SLC30A8	Rs200185429	rs200185429, also known as c.412C>T, p.Arg138Ter and R138X, is perhaps the best studied of over 10 loss-of-function variants found in the SLC30A8 gene to reduce risk of developing type-2 diabetes by about 2/3rds (OR:0.34, p=1.7×10e−6) in a large Icelandic study published in 2014.
SLC30A8	Rs3802177	rs3802177 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.16 (CI: 1.05-1.27, p = 4.5 x 10e-3) Note: this SNP is fairly tightly linked (r<sup>2</sup> = 0.83) to another SNP in the SLC30A8 gene also linked to type-2 diabetes, rs13266634.
SLC34A3	Rs121918239	rs121918239, also known as c.756G>A, is a relatively rare mutation in the SLC34A3 gene on chromosome 9.The rs121918239 (A) mutation is considered pathogenic for hypophosphatemic rickets with hypercalciuria, a recessively inherited condition.
SLC37A4	Rs80356489	Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.
SLC37A4	I5012878	Glycogen Storage Disease Type 1b rs80356489.
SLC39A4	Rs1057523837	Aka c.493C>T (p.Gln165Ter) Reported by one ClinVar submitter as likely to be pathogenic, presumably for acrodermatitis enteropathica.
SLC39A4	Rs121434292	Aka c.283C>T (p.Arg95Cys) Note that dbSNP reports the existence of an alternate alternate allele, c.283C>A (p.Arg95Ser), but the pathogenicity is not reported.
SLC45A2	Rs183671	A genome-wide association scan in admixed Latin Americans identified loci influencing facial and scalp hair features, finding that the rs183671 (C) allele was associated with hair graying in these mixed Latin American populations.
SLC45A2	Rs26722	Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
SLC45A2	Rs35391	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
SLC45A2	Rs6867641	Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
SLC4A1	Rs2285644	Therefore, the most common phenotype in most such populations is Di (a+b+).Non-ABO Blood Groups.
SLC4A1	Rs769664228	Aka NM_000342.3 (SLC4A1) :c.1199_1225del27 or (p.Ala400_Ala408del) OMIM pathogenic variant.
SLC4A1	Rs5036	It is reported in ClinVar as likely to be benign, although some publications do cite some variation in anion transport in erythrocytes due to this (Memphis) variant.
SLC5A2	Rs61742739	rs61742739, also known as c.1961A>G, p.Asn654Ser and N654S, represents a rare variant in the SLC5A2 gene on chromosome 16.Mutations in the SLC5A2 gene are reported to cause a familial form of renal glycosuria, with both dominant and recessive forms of inheritance reported.
SLC6A2	Rs40147	Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.
SLC6A2	Rs5569	(Associated with ADHD.).
SLC6A2	Rs5568	A allele associated with better response to treatment of ADHD with atomoxetine.
SLC6A2	Rs5558	W/ major depression Cysteine variant exhibited increased norepinephrine transport, insensitivity to protein kinase C induced down-regulation, and a decrease in desipramine (tricyclic antidepressant) potency.
SLC6A2	Rs3785157	Support for association between ADHD and two candidate genes: NET1 and DRD1.
SLC6A2	Rs36029	Pharmacogenetics of antidepressant response.
SLC6A2	Rs11568324	The data were consistent for rs11568324, suggesting the existence of a rare allele conferring protection for ADHD.
SLC6A2	Rs3785143	T allele may be associated with Attention deficit hyperactivity disorder.
SLC6A2	Rs1861647	(Associated with ADHD.).
SLC6A3	I5005473	rs267607068 Infantile Parkinsonism-dystonia.
SLC6A3	Rs2652511	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.A common haplotype at the dopamine transporter gene 5 region is associated with attention-deficit/hyperactivity disorder.A promoter polymorphism (-839 C > T) at the dopamine transporter gene is associated with attention deficit/hyperactivity disorder in Brazilian children.No support for association between the dopamine transporter (DAT1) gene and ADHD.
SLC6A3	Rs2963238	Pharacogenetic effects of dopamine transporter gene polymorphisms on response to chlorpromazine and clozapine and on extrapyramidal syndrome in schizophrenia.
SLC6A3	Rs37022	Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.
SLC6A3	Rs431905514	C.1031+1G>A.
SLC6A3	Rs6350	Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
SLC6A4	Rs25531	Headaches), but they say no associations with efficacy.
SLC6A4	Rs6354	Association study of serotonin transporter gene (SLC6A4) in systemic sclerosis in European Caucasian populations.
SLC6A4	Rs4795541	Note, however, that this is actually a tri-allelic SNP, in that on occasion, a single nucleotide, usually a G, may be present at this position.This SNP has been studied in many contexts, including the following: Anxiety related behaviours and disorders Depression Response to anti-depressant drugs Seasonality and seasonal affective disorder Suicide Premature ejaculation Men with the LL genotype ejaculate about twice as quickly as men with SS or SL genotypes on average, based on a study of 89 Dutch men who suffer from the primary form of premature ejaculation.
SLC6A4	Rs4583306	The haplotype A-A-G for SNPs rs3794808, rs140701 and rs4583306 has a 1.7x increased risk for panic disorder.
SLC6A4	Rs4251417	Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women.
SLC6A4	Rs3794808	Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples.
SLC6A4	Rs2066713	Association study of serotonin transporter gene (SLC6A4) in systemic sclerosis in European Caucasian populations.
SLC6A4	Rs25532	The more common allele, rs25532 (C), is the higher-expressing allele.A study of patients with obsessive compulsive disorder (OCD) concluded that the major allele of rs25532 was a major contributor to the association of a corresponding haplotype with this disorder.
SLC6A4	Rs11080122	Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples.
SLC6A4	Rs1042173	While this held true for both men and women, this association was not seen in Hispanics.
SLC6A4	Rs28914832	Characterization of a functional polymorphism in the 3 UTR of SLC6A4 and its association with drinking intensity.
SLC9A9	Rs1995356	A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression.
SLCO1B1	Rs4363657	SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink.
SLCO1B1	Rs11045879	Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
SLCO1B1	Rs4149056	The Gene Sherpa points out a 16x odds ratio for myopathy when taking statins and suggests fenofibrates might be a good alterative.From Coriell (re SLCO1B1 haplotypes) : rs72559745 (SLCO1B1 1) AAAA rs56061388 (SLCO1B1 3) TTTT rs4149056 (SLCO1B1 5) TTTT rs55901008 (SLCO1B1 6) TTTT A study of ~500 individuals taking statins concluded that rs4149056 (C), i.e.
SLCO1B3	Rs11045585	This prediction system correctly classified 69.2% of severe leukopenia/neutropenia and 75.7% of non-leukopenia/neutropenia into the respective categories.Effect percentages provided in table are raw population fractions taken from the referenced study based on rs11045585 only.
SLCO1B3	Rs11045585	Breakdown: leukopenia/neutropenia: AA=20 AG=19; non-leukopenia/neutropenia: AA=63 AG=11.
SLITRK1	Rs150504822	Aka c.1252A>T (p.Thr418Ser or T418S). note ambiguous flip potential, especially given plus/FWD orientation of SNP but minus/REV orientation of cDNA.
SLITRK1	Rs9546538	See Tourette syndrome.
SMAD3	Rs17228212	rs17228212 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group in two populations.
SMAD3	Rs17293443	A subsequent replication study of Icelanders yielded lower odds (1.15, CI:1.07–1.23,p=3 × 10e−4).
SMAD6	Rs12913975	However, the SNP is located in the SMAD6 gene, an inhibitor of TGF-beta signaling that is a pathway affected in different cancers, so this may in fact be a functional variant PMID: 23284751.In 2011 Lin et al..
SMAD7	Rs58920878	rs58920878 on 18q21.1 (colorectal cancer OR 1.49, CI: 1.14–1.95, P=0.0035).
SMAD7	Rs736839	Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
SMAD7	Rs12953717	The odds ratios show an increased risk for the minor rs12953717 (T) allele; the OR for (T;T) homozygotes is 1.37 (CI: 1.25-1.5), and for (C;T) heterozygotes 1.11 (CI: 1.03-1.2), overall p=9x10<sup>-12</sup>.
SMAD7	Rs4464148	rs4464148 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK.
SMAD7	Rs4939827	rs4939827 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK.
SMARCAD1	Rs1114167276	OMIM pathogenic.
SMARCAD1	Rs1114167277	OMIM pathogenic.
SMN1	Rs104893932	rs104893932, also known as c.784A>G, p.Ser262Gly and S262G, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893932 (G) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.This SNP is referred to as i5005738 by 23andMe.
SMN1	Rs104893931	rs104893931, also known as c.131A>T, p.Asp44Val and D44V, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893931 (T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.This SNP is referred to as i5005735 by 23andMe.
SMN1	Rs104893933	rs104893933, also known as c.346A>T, p.Ile116Phe and I116F, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893933 (T) allele is a mutation associated with the recessively inherited type 1 spinal muscular atrophy.This SNP is referred to as i5005739 by 23andMe.
SMN1	Rs104893930	rs104893930, also known as c.88G>A, p.Asp30Asn and D30N, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893930 (A) allele is a mutation associated with the recessively inherited type 2 spinal muscular atrophy.This SNP is referred to as i5005734 by 23andMe.
SMN1	Rs104893935	rs104893935, also known as c.332C>G, p.Ala111Gly and A111G, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893935 (G) allele is a mutation associated with the recessively inherited type 1 or 2 spinal muscular atrophy.This SNP is referred to as i5005737 by 23andMe.
SMN1	Rs75660264	rs75660264, also known as c.785G>T, p.Ser262Ile and S262I, is a mutation in the SMN1 gene on chromosome 5.The rare rs75660264 (T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.This SNP is referred to as i5005728 by 23andMe.
SMN1	Rs76871093	rs76871093, also known as c.821C>T, p.Thr274Ile and T274I, is a mutation in the SMN1 gene on chromosome 5.The rare rs76871093 (T) allele is a mutation associated with the recessively inherited type 2 or 3 spinal muscular atrophy.This SNP is referred to as i5005727 by 23andMe.
SMN1	Rs104893934	rs104893934, also known as c.406C>G, p.Gln136Glu and Q136E, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893934 (G) allele is a mutation associated with the recessively inherited type 1 spinal muscular atrophy, also known as Werdnig-Hoffmann disease.
SMN1	Rs104893922	rs104893922, also known as c.815A>G, p.Tyr272Cys and Y272C, is a mutation in the SMN1 gene on chromosome 5.The rare rs104893922 (G) allele is a mutation associated with the recessively inherited type 1 spinal muscular atrophy.This SNP is referred to as i5005729 by 23andMe.
SMN1	Rs77804083	rs77804083, also known as c.305G>A, p.Trp102Ter and Y102X, is a mutation in the SMN1 gene on chromosome 5.The rare rs77804083 (T) allele is a mutation associated with the recessively inherited type 2 spinal muscular atrophy.This SNP is referred to as i5005733 by 23andMe.
SMN1	I5005738	rs104893932 spinal muscular atrophy.
SMN1	I5005737	rs104893935 spinal muscular atrophy.
SMN1	I5005735	rs104893931 spinal muscular atrophy.
SMN1	I5005734	rs104893930 spinal muscular atrophy.
SMN1	I5005733	rs77804083 spinal muscular atrophy.
SMN1	I5005729	rs104893922 spinal muscular atrophy.
SMN1	I5005728	rs75660264 spinal muscular atrophy.
SMN1	I5005727	rs76871093 spinal muscular atrophy.
SMN1	I5005739	rs104893933 spinal muscular atrophy.
SMN2	Rs4916	This SNP is discussed in the discussion of spinal muscular atrophy (SMA). it is a SNP theoretically found in exon 7 of the SMN1 gene.In a world with perfect analytic tests, there would be 3 possible genotypes most likely to arise from this SNP: (-;-), (-;C), and (C;C), indicated spinal muscular atrophy patients, carriers for SMA, and non-carriers, respectively.However, due to the presence of identical flanking sequences to either side of this location in the genome for the near identical gene SMN2, an imperfect test can yield a (T;T) genotype for this SNP, which is really just a read of the SMN2 gene sequence at this location.Test that determine the ratio of what could be called rs4916 (C) to rs4916 (T) alleles may be possible to determine dosage ratio between SMN1 and SMN2.
SMPD1	Rs387906289	Aka c.996delC (p.Phe333Serfs) Niemann-Pick Disease Type A.
SMPD1	Rs120074124	Aka c.911T>C (p.Leu304Pro or L304P) Niemann-Pick Disease Type A.
SMPD1	Rs120074118	Aka c.1829_1831delGCC (p.Arg610del) Niemann-Pick Disease Type A.
SMPD1	I4000381	Niemann-Pick Disease Type A rs120074124.
SMPD1	I4000383	Niemann-Pick Disease Type A rs387906289.
SMPD1	I4000430	Niemann-Pick Disease Type A rs120074117.
SNAP25	Rs362584	The G allele of SNAP25 gene SNP rs362584 was associated with increased personality_traits|neurotic traits (combined p value = 0.0000522) in a group of 3972 Sardinians, and two smaller replicative samples from the USA and Netherlands (the replicative samples were not significant by themselves, with the Netherlands sample showing considerably less of a trend).
SNAP25	Rs363039	This is one of four SNPs in the first intron of the SNAP25 gene that have been correlated with increased intelligence based on studies of ~300 Caucasian subjects.In orientation to the dbSNP entry for this SNP, rather than as published, the (C;C) genotype averages ~2 PIQ points higher than the (C;T) genotype, which averages 2 PIQ points higher than the (T;T) genotype.For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP).
SNAP25	Rs363043	For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP).
SNAP25	Rs3746544	SNPs nominally associated with schizophrenia ( rs3787283, rs3746544 ) were the same as those previously demonstrated to be associated with ADHD but with the opposite alleles, allowing the intriguing hypothesis that genetic variation at SNAP25 may be differentially associated with both schizophrenia and ADHDWhen comparing pooled results of multiple ADHD studies, only rs3746544 (A) was found to have a significant association (p=0.028) with slightly increased risk (OR 1.15 at 95%) of ADHD.
SNAP25	Rs3746544	Biased paternal transmission of SNAP-25 risk alleles in attention-deficit hyperactivity disorder.
SNAP25	Rs3787283	SNPs nominally associated with schizophrenia ( rs3787283, rs3746544 ) were the same as those previously demonstrated to be associated with ADHD but with the opposite alleles, allowing the intriguing hypothesis that genetic variation at SNAP25 may be differentially associated with both schizophrenia and ADHD.
SNAP25	Rs8636	Role of SNAP25 explored in eastern Indian attention deficit hyperactivity disorder probands.
SNCA	Rs7684318	The risk allele appears to be C.
SNCA	Rs431905511	C.152G>A (p.Gly51Asp or G51D) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson diseaseSee also OMIM 163890.0006.
SNCA	Rs2736990	SNCA polymorphisms, smoking, and sporadic Parkinsons disease in Japanese.
SNCA	Rs356165	An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimers and Lewy body pathology.
SNCA	Rs104893877	This supports previous conclusions that pesticides increase the risk of Parkinsons disease in genetically predisposed people.
SNCA	Rs104893877	Aka c.157G>A, p.Ala53Thr or A53T23andMe name: i6018770In addition to this variants association with Parkinsons disease in general, possibly early-onset type, a 2018 publication based on the use of human stem cells reported that exposure of those cells to certain pesticides (paraquat and maneb) at relatively low levels impaired the function of dopamine-producing neurons if (and only if) they carried the A53T variant.
SNCA	Rs104893875	C.136G>A (p.Glu46Lys or E46K) Considered probably pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease.See also OMIM 163890.000423andMe calls this i5002552.
SNCA	Rs104893878	C.88G>C (p.Ala30Pro or A30P) Considered probably pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease23andMe calls this i6018768.
SNX10	Rs398123011	SNX10 gene, c.152G>A (p.Arg51Gln) rs398123011 (A) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.
SOD1	Rs80265967	rs80265967, also known as D90A or less commonly Asp90Ala, is a mutation in the superoxide dismutase 1 SOD1 gene. rs80265967 (C) has been associated with familial (inherited) forms of amyotrophic lateral sclerosis, in both heterozygous dominant and homozygous recessive forms.
SOD1	Rs1041740	A study of ~2800 Japanese adults concluded that rs1041740 (T;T) was associated with cardiovascular mortality (adjusted HR, 2.07, CI: 1.10–3.91, p = 0.0244).
SOD1	Rs121912438	A polymorphism of the SOD1 gene known as G93A.
SOD1	Rs121912441	rs121912441, also known as c.341T>C, p.Ile114Thr and I114T, represents a rare mutation in the SOD1 gene on chromosome 21.The minor rs121912441 (C) allele is considered an autosomal dominant mutation leading to amyotrophic lateral sclerosis according to two sources in ClinVar.
SOD1	Rs121912442	A polymorphism on the SOD1 gene known as A4V.
SOD2	Rs2758346	rs2758346 rs4880 and rs2855116 association with Alzheimers diseaseThe T allele appears to be more common in late-onset Alzheimers disease.
SOD2	Rs2855116	rs2758346 rs4880 and rs2855116 association with Alzheimers disease.
SOD2	Rs2855116	The G allele appears to be associated with late-onset Alzheimers disease.
SOD2	Rs1799725	Note: rs1799725 was combined into rs4880 by dbSNP.
SORT1	Rs17646665	Minor Allele (G) associated with reduced risk (OR 0.6x, CI: 0.4-0.8) for Alzheimers Disease; it is possible that the reported association could be restricted to a Swedish/Scandinavian population.
SOS1	Rs397517149	Aka c.1642A>C (p.Ser548Arg).
SOST	Rs387906320	Aka c.70C>T (p.Gln24Ter).
SOX5	Rs1464500	Gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 1 x 10^-7 for high density lipoprotein (HDL) as a result of perphenazine use.
SOX5	Rs10842262	rs10842262 associated with non-obstructive azoospermia.
SPINK5	Rs2303064	rs2303064, a SNP in the SPINK5 gene, has been associated with susceptibility to atopic dermatitis.
SPINK5	Rs2303067	When children with a combination of asthma and atopic dermatitis were compared with normal controls, the rs2303067 (A) genotype was more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007)..
SPTA1	Rs35948326	rs35948326, also known as c.2909C>A, p.Ala970Asp, A970D and alpha-IIa, represents a variant in the SPTA1 gene on chromosome 1.Although reported as associated with autosomal recessive spherocytosis, the rs35948326 (A) allele (as reported in dbSNP orientation) may actually be more of a proxy for a truly defective variant that is co-inherited as a result of linkage.
SPTLC1	Rs119482081	The symptoms begin with subtle loss of pain and temperature perception and are followed by ulcers in the toes and fingers.
SRD5A2	Rs523349	rs523349 is a SNP in the steroid-5-alpha-reductase SRD5A2 gene; it is also known as V89L.In a study of a total of 1,466 Caucasian cases of ovarian cancer, the rs523349 (G) allele showed a significant trend of increasing risk of ovarian cancer per rare allele (p = 0.00002).
SRD5A2	Rs523349	Showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer.
SRD5A2	Rs9332964	The homozygous rs9332964 (A;A) genotype has been observed in several Japenese males with micropenis.
SREBF1	Rs2297508	Type-2 diabetes rs2297508 (C) and rs11868035 (C).
SREBF1	Rs11868035	Plos Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes.
SREBF1	Rs2297508	rs2297508 is one of several SNPs associated with the SREBF1 gene that show a modest association with type-2 diabetes.A study of ~2,000 Caucasian patients (and 10,000+ controls) led to an odds ratio of 1.17 (CI: 1.05-1.30, p=0.003) for the minor (risk) allele, rs2297508 (C).
STAG3	Rs376787666	Aka c.1573+5G>AReported in as a recessively inherited mutation in the STAG3 gene leading to primary ovarian insufficiency.
STAR	Rs193922393	Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
STAR	Rs104894089	C.559G>A (p.Val187Met) Named i5007376 by 23andMe.
STAT3	Rs12951971	Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
STAT3	Rs6503695	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
STAT3	Rs7211777	A decreased risk was observed for carriers of the AT haplotype (OR = 0.60, 95% CI 0.38-0.94).
STAT4	Rs10181656	Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
STAT4	Rs11889341	Abnormal Genetic and Epigenetic Changes in Signal Transducer and Activator of Transcription 4 in the Pathogenesis of Inflammatory Bowel Diseases.
STAT4	Rs3821236	CPMC uses this to indicate increased risk of Systemic lupus erythematosus.
STAT4	Rs7574865	A study of 2,776 Spanish subjects found that the rs7574865 (T) allele was associated with rheumatoid arthritis, Crohns disease, ulcerative colitis, and type-1 diabetes, but not with multiple sclerosis.Scleroderma.
STAT4	Rs7601754	Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus.
STAT4	Rs7601754	A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
STAT4	Rs7601754	Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region.
STAT4	Rs7601754	Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese.
STAT4	Rs8179673	Abnormal Genetic and Epigenetic Changes in Signal Transducer and Activator of Transcription 4 in the Pathogenesis of Inflammatory Bowel Diseases.
STAT5B	Rs9900213	A polymorphism associated with STAT3 expression and response of chronic myeloid leukemia to interferon alpha.
STAT5B	Rs6503691	Association between polymorphisms in the signal transducer and activator of transcription and dilated cardiomyopathy in the Chinese Han population.
STOX1	Rs10509305	rs10509305, also known as Glu608Asp or E608D, is a variant in the storkhead box 1 STOX1 gene.In and subsequent publications, it is reported that when fetuses are rs10509305 (C;C), their mothers are likely to have pre-eclampsia and possibly also pregnancy-induced hypertension.
SUOX	Rs121908007	rs121908007, also known as R160Q, is a SNP in the sulfite oxidase SUOX gene.A report published in 1998 concluded that a patient suffering from sulfite oxidase deficiency inherited two copies of the rs121908007 (A) allele.
SUOX	Rs121908009	SULFITE OXIDASE DEFICIENCY, ISOLATEDSUOX, GLY473ASPIn a cell line from a patient with isolated sulfite oxidase deficiency (272300), Kisker et al.
SUOX	Rs202085145	Aka c.228G>T, p.Arg76Ser, R76SClinVar indicated uncertain significance for sulfite oxidase deficiency, also known as Sulfocysteinuria, listed in OMIM as a recessively inherited condition; in, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).
SUOX	Rs773125	One of 42 more SNPs associated with rheumatoid arthritis based on a meta-analysis of 30,000 patients, most with odds ratios of 1.01 - 1.2.
SURF1	Rs28933402	Leigh syndrome is more common in some French-Canadian populations.
SURF1	Rs782316919	Associated with Leigh syndrome according to OMIM.
TAB2	Rs237025	The Type I Diabetes Genetics Consortium Rapid Response family-based candidate gene study: strategy, genes selection, and main outcome.
TAF1	Rs864321630	C.1786C>T (p.Pro596Ser).
TAP2	Rs1800454	Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
TARDBP	Rs80356715	TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
TARDBP	Rs80356715	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
TARDBP	Rs80356717	TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
TARDBP	Rs80356719	TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
TAS2R38	Rs713598	TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Womens Heart and Health Study.
TBX21	Rs11650354	The odds ratio associated with rs11650354 (T;T) homozygotes compared to rs11650354 (C;C) homozygotes for allergic asthma is reported to be 8.13 (CI: 2.5-26.9).
TBX21	Rs16947078	A large study of Caucasian children has identified this SNP in the TBX21 gene (and one other, rs11650354 ) as defining a haplotype associated with increased risk for allergic asthma.
TBX21	Rs16947078	The odds ratio associated with rs16947078 (G;G) homozygotes compared to rs16947078 (A;A) homozygotes for allergic asthma is reported to be 8.13 (CI: 2.5-26.9).
TBX21	Rs4794067	And those 2 SNPs also reduce the risk of intractable Graves disease (at least in Japanese people).
TBXAS1	Rs4725563	Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke.
TCF7L2	Rs4506565	rs4506565 has been reported in a large study to be associated with type-2 diabetes.The risk allele (oriented to the dbSNP entry) is (T). the odds ratio associated with heterozygotes is 1.36 (CI 1.2-1.54), and for homozygotes, 1.88 (CI 1.56-2.27).
TCF7L2	Rs4506565	Note: this is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs7903146.
TCF7L2	Rs3814570	rs3814570 is a SNP in the transcription factor 7-like 2 (T-cell specific, HMG-box) TCF7L2 gene.A study of 784 Crohns disease patients with ileal involvement concluded that rs3814570 was associated with increased risk, but not with risk for colonic Crohns disease or ulcerative colitis.
TCF7L2	Rs7895340	TCF7L2 polymorphism rs7903146 is associated with coronary artery disease severity and mortality.
TCF7L2	Rs7903146	Among African American youth, each copy of a rs7903146 (T) allele was associated with a 1.97-fold (CI:1.37 - 2.82) increased odds for type 2 diabetes (p?<?0.0001), yet no significant association was detected in non-Hispanic white youth (adjusted odds ratio 1.14; CI: 0.73 - 1.79).
TCF7L2	Rs4506565	They have approximately equal power to estimate risk for type-2 diabetes, and the results from one correlate 92% of the time with the other.
TCF7L2	Rs290487	Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
TCF7L2	Rs7901695	Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
TCF7L2	Rs290487	Exon sequencing and association analysis of polymorphisms in TCF7L2 with type 2 diabetes in a Chinese population.
TCF7L2	Rs290487	Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects.
TCF7L2	Rs290487	Association study of the genetic polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene and type 2 diabetes in the Chinese population.
TCF7L2	Rs290481	Pleiotropic effects of TCF7L2 gene variants and its modulation in the metabolic syndrome: from the LIPGENE study.
TCF7L2	Rs11196205	rs12255372, rs7903146, rs7901695 and rs11196205 associated with type-2 diabetes.
TCF7L2	Rs10885406	Considered for type-2 diabetes in context with rs7903146 rs12255372 rs10885406.
TCF7L2	Rs290487	Meta-analysis of the association between SNPs in TCF7L2 and type 2 diabetes in East Asian population.
TCHH	Rs201930497	Uncombable hair syndrome variant in TCHH gene, c.991C>T or p.Gln331.
TCHH	Rs11803731	rs11803731, a SNP in the Trichohyalin gene (TCHH) gene, is estimated to account for 6% of the variance in hair morphology (ie hair curliness) based on a study of Australians of European ancestry.
TDP2	Rs2143340	Genetic risk for poor reading performance.rs2143340, a SNP in the TTRAP gene, is in a region that crops up in several independent studies as likely to associated with dyslexia.
TDP2	Rs3212236	The more common allele of rs3212236 has been linked to increased risk for developmental dyslexia in a study of ~300 British families.
TDP2	Rs9461045	Plos linked to dyslexia A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
TECTA	Rs28939690	Deafness.
TECTA	Rs28939691	Deafness.
TEK	Rs80338908	Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
TEK	Rs387906745	rs387906745, also known as c.2744G>A, Arg915His and R915H, represents a mutation in the TEK gene on chromosome 9.The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations.
TEK	Rs80338909	Allelic and locus heterogeneity in inherited venous malformations.
TERC	Rs12696304	Telomere shortening can lead to premature aging, in terms of increased risk for age-associated diseases such as heart disease, and at least some forms of cancer, and therefore also reduced longevity.Note that all individuals in this study were of European descent, so it is unknown if this finding will hold across different ethnicities.
TERT	Rs2736100	HTERT cancer risk genotypes are associated with telomere length.Testicular Cancer.
TERT	Rs2736100	Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.
TERT	Rs2736100	Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk.
TERT	Rs2736100	Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
TERT	Rs2736100	Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility hot-spot.
TERT	Rs2736100	Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.
TERT	Rs2736100	Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.
TERT	Rs2736100	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
TERT	Rs2736100	/ 23andMe blog rs2736100 C 1.27 Glioma Lung cancer susceptibility locus at 5p15.33.
TERT	Rs2736098	/ 23andMe blog rs2736098 and rs401681 linked to many cancers.
TERT	Rs2736100	Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
TF	Rs1049296	One explanation for the presence of the C2 TF subtype in humans is that it may reduce the effectiveness of some bacterial transferrin binding proteins./.
TF	Rs1799852	Potential markers of iron deficiency anaemia risk: two in the transferrin gene TF ( rs3811647, rs1799852 ) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women.
TF	Rs1799899	The A allele of rs1799899, also known as the human transferrin G277S mutation, is associated with iron deficiency anemia, lower total iron binding capacity (TIBC), and anemia in menstruating white women.
TFAM	Rs1937	The C allele of rs1937 appears to be protective against late-onset Alzheimers disease in Han Chinese.
TFR2	Rs80338886	Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
TFR2	Rs80338891	Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
TFR2	Rs80338881	Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes.
TG	Rs142698837	C.229G>A, p.Gly77Ser, G77SClinVar indicated uncertain significance for a form of thyroid dyshormonogenesis, listed in OMIM as a recessively inherited condition; in, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so is considered pathogenic.
TG	Rs180223	More significant combined ODs were received when these SNPs were were combined: GTAC = 0.22 Hypothyroidism (HY), 0.22 Graves (GD), 0.24 Hashimotos (HT) GCGC = 0.57 HT GTGC = 3.57 GD, 3.50 HT TTGC = 4.00 HY TCGC = 5.23 HY, 3.00 GD, 4.45 HT This 2003 article titled Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease performed case control association studies for 14 TG SNPs in 285 Caucasian AITD patients and 150 Caucasian controls.
TGFB1	Rs1800469	Although smoking is the main risk factor, smokers with a rs1800469 (C) allele (or 2 other TGFB1 SNPs, rs1982073 and rs2241712 ) were more likely to develop COPD, based on a study of ~700 Caucasian subjects Although based on a relatively small number of patients, a 2018 study concluded that women with breast cancer receiving radiation who carry a rs1800469 (T) allele are at ~4x higher risk of radiation-induced fibrosis (scarring) and related poor cosmetic outcomes compared to women who are rs1800469 (C;C).
TGFB1	Rs1982073	An association of (C) with hypertension in rheumatoid arthritis patients rs1982073 chemoradiotherapy (C;C) and (C;T) were associated with a better disease-free and overall survival when compared with the low-producer TT genotype (hazard ratios for interaction 3.42, 95% CI 1.12-10.5 and 3.09, 95% CI 0.96-10.0, respectively).
TGFB1	Rs4803455	The T allele appears to be protective against high myopia.
TGFB2	Rs863223797	Independently, in, along with one other suspicious mutation, rs757309797, this mutation was observed in the genome of an otherwise healthy young adult who died suddenly.
TGFB3	Rs4252338	No association between 3 polymorphisms of transforming growth factor beta3 gene and essential hypertension in Chinese.
TGFBR1	Rs7871490	Appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490.
TGFBR1	Rs334349	Appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490.
TGFBR1	Rs1590	Appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490.
TGFBR1	Rs334348	Appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490.
TH	Rs6578993	Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response.
TH	Rs10840491	Tyrosine hydroxylase Val81Met polymorphism: lack of association with schizophrenia.
TH	Rs2070762	Functional analysis showed that the C allele of rs2070762 functioned as an enhancer in the absence of binding by unidentified transcriptional repressor (s).
TH	Rs6356	Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism.
TH	Rs3842727	Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior.
THSD1	Rs9536062	Aka c.670C>T, p.Arg224Ter but also C>G, p.Arg224Glythe c.670C>T mutation, which in dbSNP orientation is rs9536062 (A), may be a very very rare mutation reported as pathogenic by one source in ClinVar for non-immune hydrops fetalis when present in two copies the c.670C>G variant, which is rs9536062 (C) in dbSNP orientation, has an allele frequency of ~5% in ExAC and a reasonable number of minor homozygotes, so its quite likely to be benign.
THSD1	Rs776400380	This SNP represents a rare variant in the THSD1 gene on chromosome 13.The minor allele has been reported (in heterozygotes) in a 2016 study to be potentially strongly associated with intracranial Aneurysm.
THSD1	Rs201805081	This SNP represents a rare variant in the THSD1 gene on chromosome 13.The minor allele has been reported (in heterozygotes) in a 2016 study to be potentially strongly associated with intracranial Aneurysm.
THSD1	Rs371717283	This SNP represents a rare variant in the THSD1 gene on chromosome 13.The minor allele has been reported (in heterozygotes) in a 2016 study to be potentially strongly associated with intracranial Aneurysm.
TK2	Rs281865501	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865497	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865498	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865499	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865500	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865502	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865496	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865504	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865505	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865506	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865507	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs863224235	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs886039669	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865503	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865495	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs137854431	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865493	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs137854429	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs137854430	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865494	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs137886900	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs138439950	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs142291440	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs137854432	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865487	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865488	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865489	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865490	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865491	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865492	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TK2	Rs281865486	Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition.
TLR1	Rs5743551	Sepsis-related ALI (OR 3.40, 95% CI 1.59-7.27) and gram-positive infection in sepsis.
TLR1	Rs5743592	Genetic variation and haplotype structures of innate immunity genes in eastern India.
TLR2	Rs3804100	rs3804100, also known as 1350T/C, is a SNP in the toll-like receptor 2 TLR2 gene.A study of 700 T1D children, 357 nuclear families with T1D children and 796 children from the Environment and Childhood Asthma study concluded that both type-1 diabetes and allergic asthma were significantly associated with the rs3804100 (T) allele.
TLR3	Rs1879026	Associations between SNPs in toll-like receptors and related intracellular signaling molecules and immune responses to measles vaccine: preliminary results.
TLR3	Rs5743305	Toll-like receptor signaling pathway variants and prostate cancer mortality.
TLR3	Rs5743305	Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.
TMC1	Rs1796993	Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
TMEM43	Rs113449357	rs113449357, also known as c.934C>T, p.Arg312Trp and R312W, is a variant in the TMEM43 gene on chromosome 3.There are conflicting interpretations in ClinVar of whether the minor allele of this variant is pathogenic for an unspecified form of cardiomyopathy.
TMEM43	Rs63750743	rs63750743, also known as Ser358Leu or S358L, is a SNP in the TMEM43 gene on chromosome 3.Carrying a single rs63750743 (T) allele is reported to lead, sooner or later, to arrhythmogenic right ventricular dysplasia type 5 (ARVD5).This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
TMIE	Rs28941781	Deafness.
TMIE	Rs28942096	Deafness.
TMIE	Rs28942097	Deafness.
TMPRSS3	Rs28939084	Deafness.
TMPRSS6	Rs5756506	A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
TNF	Rs1799964	Associated with at least one mortality outcome in a study of ~10,000 individuals.Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves disease cases, concluded that rs1799964 (C) carriers were associated with the disease.
TNF	Rs1800630	rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant.In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630 (A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p (corr) = 0.009).
TNF	Rs1800630	This allele was also found to be significantly increased in the SLE group with Raynauds phenomenon compared to SLE without Raynauds phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p (corr) = 0.048).Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves disease cases, concluded that rs1800630 (A) carriers were associated with the disease.
TNF	Rs1800750	rs1800750, a SNP located at position -376 of the TNF gene, has been linked to increased risk for recurrent acute otitis in a study of 348 children.
TNF	Rs3093664	Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population.
TNF	Rs3093665	Toll-like receptor signaling pathway variants and prostate cancer mortality.
TNF	Rs3093668	Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population.
TNFAIP3	Rs2230926	The tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, a key molecule in numerous immunologic and other processes due to its role in controlling NF-κB activation.Meta-analysis found 1.4x risk of rheumatoid arthritis for rs2230926 (G;G) An association was found between Systemic lupus erythematosus (SLE) and rs2230926.Three independent SNPs in the TNFAIP3 region ( rs13192841, rs2230926 and rs6922466 ) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry.In Sjögrens syndrome patients, the rs2230926 (G) allele more than doubles the risk of primary Sjogrens Syndrome-associated Non-Hodgkin Lymphoma, according to a study which replicated the initial report in both UK and French patient cohorts of ~500 patients.
TNFAIP3	Rs5029937	rs5029937 rs13207033 protective P= 0.0001, OR 0.86 (0.8-0.93) perfectly correlated with rs10499194 The combination of the carriage of both risk alleles of rs6920220 and rs5029937 together with the absence of the protective allele of rs13207033 was strongly associated with RA when compared to carriage of none OR of 1.86 (95% CI) (1.51-2.29).
TNFAIP3	Rs5029939	An association was found between Systemic lupus erythematosus (SLE) and rs5029939 (meta-analysis p = 2.89 x 10 (-12), odds ratio 2.29).
TNFAIP3	Rs582757	Psoriasis is a common and chronic autoimmune disease characterized by skin lesions, which are raised, often red and scaly.
TNFRSF1A	Rs4149584	rs4149584 is a SNP in the tumor necrosis factor receptor superfamily, member 1A TNFRSF1A gene.A large study (~5,000 patients) found two SNPs in the TNFRSF1A gene that each (independently) increase risk for multiple sclerosis, rs1800693 and rs4149584.
TNFRSF1A	Rs4149579	C.39+3585G>A is a rare SNV in an intronic region of TNFRSF1A, the gene for tumor necrosis factor receptor 1A.
TNFRSF1A	Rs4149577	Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese.
TNFRSF1A	Rs1800693	rs1800693 is a SNP in the tumor necrosis factor receptor superfamily, member 1A TNFRSF1A gene.A large study (~5,000 patients) found two SNPs in the TNFRSF1A gene that each (independently) increase risk for multiple sclerosis, rs1800693 and rs4149584.
TNFRSF1A	Rs4149570	Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
TNFRSF1A	Rs104895217	Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
TNNI3	Rs397516347	Aka c.422G>A (p.Arg141Gln) The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.This variant has also been reported in a sudden cardiac death patient.
TNNI3	Rs267607129	rs267607129, also known as c.555C>G, p.Asn185Lys and N185K, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs267607129 (G) allele is reported to lead to dilated cardiomyopathy, type 1FF.
TNNI3	Rs267607127	For more information, see OMIM 191044.0014.This mutation is referred to as i5007738 by 23andMe.
TNNI3	Rs121917761	rs121917761, also known as c.511G>A, p.Ala171Thr and A171T, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs121917761 (A) allele is reported to lead to familial restrictive cardiomyopathy, type 1.
TNNI3	Rs104894730	rs104894730, also known as c.532A>G, p.Lys178Glu and K178E, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs104894730 (G) allele is reported to lead to familial restrictive cardiomyopathy, type 1.
TNNI3	Rs104894728	rs104894728, also known as c.569A>G, p.Asp190Gly and D190G, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs104894728 (G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7.
TNNI3	Rs104894727	rs104894727, also known as c.586G>A, p.Asp196Asn and D196N, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs104894727 (A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7.
TNNI3	Rs104894729	For more information, see OMIM 191044.0006.The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.This mutation is referred to as i5048716 and i5007732 by 23andMe.
TNNI3	I5048706	rs267607129 dilated cardiomyopathy, type 1FF.
TNNI3	I5007738	rs267607127 familial hypertrophic cardiomyopathy type 7.
TNNI3	Rs104894724	This mutation is referred to as i3002796 by 23andMe.The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	I5007736	rs267607130 dilated cardiomyopathy, type 1FF.
TNNI3	I5007735	rs121917761 familial restrictive cardiomyopathy, type 1 (possibly).
TNNI3	I5007733	rs104894730 familial restrictive cardiomyopathy, type 1.
TNNI3	I5007729	rs77615401 familial hypertrophic cardiomyopathy, type 7, possibly.
TNNI3	I5007728	rs104894725 familial hypertrophic cardiomyopathy, type 7.
TNXB	Rs12198173	Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.
TOR1A	Rs80358233	However, the vast majority of cases that are diagnosed are associated with this (deltaE302) mutation, and it is a mutation most associated with Ashkenazi Jews.Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant torsion dystonia (type 1).Note that the clinical disease occurs in only 30% of mutation carriers, so in genetic terms, the penetrance is relatively low.
TOR1A	Rs2296793	Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
TOR1A	Rs2296793	After adjusting for age, sex, and their interaction, a strong association between dystonia and two SNPs, rs13283584 and rs1182 was observed.
TOR1A	Rs13283584	After adjusting for age, sex, and their interaction, a strong association between dystonia and two SNPs, rs13283584 and rs1182 was observed.
TOR1A	I4000446	23andMe tests for one mutation that causes torsion dystonia:i4000446, also known as deltaE302 (the risk genotype is a deletion) The rest of the world knows this SNP as rs80358233. for more information, see rs80358233.
TOR1A	Rs1801968	Specifically, the 216H allele (c.646C) appears to reduce the odds of developing torsion dystonia in rs80358233 (-;GAG) carriers, while the 216D allele appears to increase the odds.,,.
TPH2	Rs7305115	Effect of rs7305115 on susceptibility to suicide.
TPH2	Rs7954758	Investigation of the tryptophan hydroxylase 2 gene in bipolar I disorder in the Romanian population.
TPH2	Rs4565946	rs4570625 and rs4565946 linked to the pathogenesis of early-onset obsessive compulsive disorderTourettes Syndrome.
TPH2	Rs1843809	Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.
TPH2	Rs4290270	Only for Hispanics, individuals who have a genoset composed of rs1799913 (C;C) and rs4290270 (T;T) are reported to be at 9x higher risk for developing heroin addiction (CI:0.83-244.63, p=0.012).
TPH2	Rs1386494	In a study of TPH2 SNPs in panic disorder, rs1386494 was found to have a gender-specific effect, where the association was seen only the female subgroup.
TPH2	Rs120074176	rs120074176, also known as c.907C>T, p.Arg303Trp and R303W, represents a very rare loss-of-function mutation in the TPH2 gene on chromosome 12.A single rs120074176 (T) allele was found in a Norwegian female with ADHD as well as major depression.
TPH2	Rs1007023	Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts.
TPH2	Rs1487276	Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts.
TPM1	Rs104894503	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.This mutation is reported to be one of the four most common HCM-associated in Finland.
TPM1	Rs104894505	Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
TPM1	Rs28934269	Familial hypertrophic cardiomyopathysee also OMIM 191010.0001Note: This SNP, rs28934269, appears to identify the exact same polymorphic location as rs104894502.
TPMT	Rs56161402	This SNP was first identified in African-Americans.| wikipedia thiopurine drugs metabolized by TPMT include azathioprine, mercaptopurine, and thioguanine23andMe name: i6019070.
TPMT	Rs1800460	While still rare, it is more common in Caucasians (4.5% of all alleles) than in African-Americans (0.8%).
TPMT	Rs56161402	rs56161402, also known as R215H or Arg215His, is a relatively rare SNP in the TPMT gene.
TPMT	Rs56161402	This SNP potentially encodes a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs.
TPMT	Rs56161402	In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced.The risk allele for this SNP (in orientation to the dbSNP entry) is rs56161402 (T), and it encodes the TPMT 8 allele (OMIM).
TPP1	Rs28940573	Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis.
TPP1	Rs56144125	rs56144125, also known as c.509-1G>C, is one of two recessively inherited mutations in the TPP1 (aka CLN2) gene, one of which is present in ~80% of patients with CLN2 disease (neuronal ceroid lipofuscinosis).Caregivers and families with a suspected CLN2 mutation-based patient are encouraged to reach out to patient advocacy groups and related healthcare practitioners, for example the Batten disease community or the / CLN2 Connection, since CLN2-­specific disease management strategies can greatly impact patient outcomes when implemented in a timely and appropriate manner.
TPP1	Rs119455955	rs119455955, also known as c.622C>T, p.Arg208Ter and R208X, is one of two recessively inherited mutations in the TPP1 (aka CLN2) gene, one of which is present in ~80% of patients with CLN2 disease (neuronal ceroid lipofuscinosis).Caregivers and families with a suspected CLN2 mutation-based patient are encouraged to reach out to patient advocacy groups and related healthcare practitioners, for example the Batten disease community or the / CLN2 Connection, since CLN2-­specific disease management strategies can greatly impact patient outcomes when implemented in a timely and appropriate manner.
TPP1	Rs28940573	Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
TRAF3IP2	Rs33980500	Reports rs33980500, with risk/non-risk alleles T/C, has an odds ratio of 1.6 (p=2.65e−16) for psoriatic arthritis based on a case/control study of ~2,000 patients.
TREM2	Rs143332484	This gene is highly expressed in microglia which are known to interact with the immune system in AD.
TREM2	Rs75932628	No association was seen between R47H and AD in a study of ~2,000 Japanese patients with late-onset AD.Additional studies include:.
TRPC6	Rs121434394	Focal segmental glomerulosclerosis 2Called i6019083 and i5005221 by 23andMe.
TRPC6	Rs121434393	Focal segmental glomerulosclerosis 2Called i5005220 by 23andMe.
TRPC6	Rs121434392	Focal segmental glomerulosclerosis 2Called i6019084 and i5005219 by 23andMe.
TRPC6	Rs121434391	Focal segmental glomerulosclerosis 2Called i6019080 and i5005218 by 23andMe.
TRPC6	I6019089	Focal segmental glomerulosclerosis 2 rs121434395.
TRPC6	I6019083	Focal segmental glomerulosclerosis 2 rs121434394.
TRPC6	Rs121434390	Focal segmental glomerulosclerosisCalled i6019082 by 23andMe.
TRPC6	I6019080	Focal segmental glomerulosclerosis 2 rs121434391.
TRPC6	I5005222	Focal segmental glomerulosclerosis 2 rs121434395.
TRPC6	I5005221	Focal segmental glomerulosclerosis 2 rs121434394.
TRPC6	I5005220	Focal segmental glomerulosclerosis 2 rs121434393.
TRPC6	I5005218	Focal segmental glomerulosclerosis 2 rs121434391.
TRPC6	I6019082	Focal segmental glomerulosclerosis 2 rs121434390.
TRPM4	Rs172149856	rs172149856, also known as c.1744G>A, p.Gly582Ser and G582S, represents a rare variant in the TRPM4 gene on chromosome 19.The minor allele for this SNP may be associated with progressive familial heart block type 1B, but it is tagged in ClinVar as of uncertain significance.
TRPM4	Rs172151858	rs172151858, also known as c.2741A>G, p.Lys914Arg and K914R, represents a rare mutation in the TRPM4 gene.The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
TRPM4	Rs200038418	rs200038418, also known as c.2531G>A, p.Gly844Asp and G844D, represents a rare mutation in the TRPM4 gene.The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
TRPM4	Rs267607142	rs267607142, also known as c.19G>A, p.Glu7Lys and E7K, represents a rare mutation in the TRPM4 gene.The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
TRPM4	Rs387907216	rs387907216, also known as c.490C>T, p.Arg164Trp and R164W, represents a rare mutation in the TRPM4 gene.The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
TSC1	Rs118203396	Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
TSHR	Rs4704397	A study of over 9,000+ individuals indicates that each copy of rs4704397 (A) is associated with an increase of 0.13 muIU/ml in serum TSH (thyroid-stimulating hormone).A separate study of 970 pregnant women at 28 weeks of gestation found that serum TSH was highest for rs4704397 (A;A) individuals (median, 2.16, 1.84, and 1.73 mIU/liter for AA, AG, and GG genotypes, respectively; p=0.0004), and more women with the (A;A) genotype had TSH concentrations above 4.21 mIU/liter, the upper limit of the reference range, compared with the (A;G) and (G;G) genotypes (9.6 vs. 3.5%, respectively; p=0.004).
TSHR	Rs2235544	The study focused on genome-wide association data in 26,420 euthyroid (healthy, not hypothyroid or hyperthyroid) individuals phenotyped for serum TSH and 17,520 for FT4 levels.
TSHR	Rs12101255	A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reported an association between rs12101255 (T) with Graves disease (odds ratio 1.5, CI: 1.410-1.600, p<0.001), and the associations were the same under dominant, recessive and co-dominant models..
TTC12	Rs10502172	/ 23andMe blog each C at was associated with smoking during adolescence but not in adulthood.
TTC29	Rs76715876	Note: cDNA is on reverse strand: Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
TTC29	Rs766352190	: Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
TTC29	Rs763399136	Note: cDNA is on reverse strand: Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
TTC29	Rs1489738488	Note: cDNA is on reverse strand: Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.
TTN	Rs1060500435	Aka c.94816C>T (p.Arg31606Ter) This mutation is considered in ClinVar to be a dominantly inherited mutation leading to either dilated cardiomyopathy or very early-onset atrial fibrillation; see also.
TTR	Rs76992529	The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
TTR	Rs28933979	This mutation is reported to be more common in Portugal as well as Sweden and Japan.A 2018 angiographic study of 18 V30M-confirmed patients reported that both retinal amyloid angiopathy (RAA) and choroidal amyloid angiopathy (CAA) were detected in 92% - 100% of eyes examined.23andMe name: i3002758.
TTR	Rs267607161	Aka c.349G>T (p.Ala117Ser or A117S; however, commonly also referred to in the literature as Ala97Ser or A97S) This variant is reported to be the most common TTR gene mutation among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy.
TTR	Rs1800458	Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families.
TTR	I3002759	TTR-related cardiac amyloidosis rs76992529.
TTR	I6019130	TTR-related cardiac amyloidosis rs76992529.
TTR	I5004213	TTR-Related Familial Amyloid PolyneuropathyFamilial amyloid polyneuropathies are neurological conditions.
TTR	I3002758	TTR-Related Familial Amyloid PolyneuropathyFamilial amyloid polyneuropathies are neurological conditions.
TTR	Rs121918070	News article indicating up to 1% of Irelands Donegal County may carry the T60A mutation.23andMe name: i5004213.
TUB	Rs2272383	rs2272383, a SNP in the TUB gene, was found in a study of 492 unrelated type-2 diabetes patients to have a significant effect on body mass index and thus obesity (1.3 kg/m (2), p= 0.01).
TUBB8	Rs869025611	Also known as c.1088T>C, p.Met363Thr and M363T Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025271	Also known as c.686T>C Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025272	Also known as c.1249G>A, p.Asp417Asn and D417N Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025273	Also known as c.5G>A, p.Arg2Lys and R2K Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025609	Also known as c.527C>T, p.Ser176Leu ans S176L Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025610	Also known as c.785G>A, p.Arg262Gln and R262Q Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TUBB8	Rs869025612	Also known as c.900G>A, p.Met300Ile and M300I Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
TXNRD2	Rs4485648	Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
TXNRD2	Rs2097603	Gray matter volume and interacts with rs2097603 related to extracellular dopamine.
TYK2	Rs12720356	Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.
TYK2	Rs2304256	Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.
TYK2	Rs12720270	Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
TYK2	Rs12720270	Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.
TYR	Rs1042602	Influences appearanceThe A allele of rs1042602 is associated with the absence of freckles.
TYR	Rs1393350	Digital quantification of human eye color highlights genetic association of three new loci.
TYR	Rs1847134	Eye color.
TYRP1	Rs2733832	Influences appearance gnxp A genomewide association study of skin pigmentation in a South Asian population.
TYRP1	Rs387907171	Aka c.277C>T (p.Arg93Cys or R93C) Inherited recessively, the rare minor allele of this SNP is reported to cause blond hair in (dark-skinned) Melanesians from the Solomon Islands.
UBA5	Rs114925667	UBA5 gene, c.1111G>A (p.Ala371Thr) pathogenic for early infantile epileptic encephalopathy-44.
UBA5	Rs540839115	UBA5 gene, c.736C>T (p.Arg246Ter) The minor allele is reported in ClinVar as being pathogenic for autosomal recessive spinocerebellar ataxia-24.
UBQLN2	Rs387906709	Two causative, dominantly inherited mutations have been mapped to this location on the X chromosome: c.1490C>A, p.Pro497His, P497H: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia c.1490C>T, p.Pro497Leu, P497L: Heterogeneous neurodegeneration;. news article about book by affected family hereDue to being X-linked, males carrying either mutation typically exhibit an earlier age of onset than females, and to some extent, more severe symptoms (and higher penetrance).
UGT1A1	Rs887829	This study of 2,000+ patients reports a recessive protective effect against coronary artery disease for the minor allele, with an age-adjusted odds ratio of 0.24 (CI: 0.10-0.60, p=0.0014).
UGT1A1	Rs8175347	UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association?.
UGT1A1	Rs6742078	Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.
UGT1A1	Rs5839491	rs5839491 is one of four SNPs all describing an insertion/deletion polymorphism in the promoter region of the UGT1A1 gene; the primary entry in SNPedia for this set of SNPs is at rs34815109.The other two SNPs (besides rs34815109 ) that also describe the same polymorphism are: rs35600288 rs34983651.
UGT1A1	Rs72551348	Aka c.989A>G (p.Gln330Arg or Q331R) This variant defines the UGT1A1 9 allele, reported to be associated with Crigler-Najjar syndrome type II, a recessively inherited condition.See also OMIM 191740.000523andMe name: i5048984.
UGT1A1	Rs4148323	rs4148323 and several other nearby SNPs help predict serum total bilirubin levels, based on a study of 750 Japanese.
UGT1A1	Rs3755319	Aka c.-1352A= (and probably also c.-1353A=) The A variant (T in dbSNP orientation) has been observed in a few Japanese newborns with hyperbilirubinemia, but the association is hardly causative, and even the authors conclude the pathogenicity is uncertain.
UGT1A1	Rs34983651	rs34983651 is one of four SNPs all describing an insertion/deletion polymorphism in the promoter region of the UGT1A1 gene; the primary entry in SNPedia for this set of SNPs is at rs34815109.
UGT1A1	Rs34815109	In colorectal cancer patients being treated with irinotecan, adverse side effects (neutropenia and/or severe diarrhea) are reported to be strongly associated with the number of UGT1A1 28 alleles.
UGT1A1	Rs4148325	Xenobiotic metabolizing gene variants, dietary heterocyclic amine intake, and risk of prostate cancer.
UGT2B17	Rs7436338	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs7435827	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs6857249	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs6552182	UGT2B17 encodes the protein UDP glucuronosyltransferase Deletion of both copies of this gene alters testosterone metabolism making steroid use undetectable.
UGT2B17	Rs13327941	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs11723091	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs10025771	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UGT2B17	Rs11938019	While its / abstract claims it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans..
UNC13D	Rs796065026	Aka c.1754dupT (p.His586Profs) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs796065024	Aka c.1828_1839delCGCGCTGTGCAG (p.Arg610_Gln613del) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs777759523	Aka c.1389+1G>Aconsidered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs766657895	Aka c.2695C>T (p.Arg899Ter) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs201908137	Aka c.753+1G>Tconsidered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs747169857	Aka c.919C>T (p.Gln307Ter) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs121434354	Aka c.2570T>G (p.Phe857Cys) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar23andMe name: i5006288.
UNC13D	Rs121434352	Aka c.766C>T (p.Arg256Ter) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar23andMe name: i5006286.
UNC13D	Rs764196809	Aka c.2346_2349delGGAG (p.Arg782Serfs) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UROS	Rs121908012	Aka c.217T>C, p.Cys73Arg and C73RThis recessively inherited mutation in the UROS gene, found in about one-third of all cases of congenital erythropoietic porphyria, is considered the most frequent.
USH1C	Rs55843567	The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
USH1G	Rs397517925	rs397517925, also known as c.1373A>T, p.Asp458Val and D458V, represents a rare mutation in the USH1G gene on chromosome 17.Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) as likely to be pathogenic for a form of Usher syndrome (type 1G).
USH2A	Rs111033263	Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
USH2A	Rs111033273	Identification of novel USH2A mutations: implications for the structure of USH2A protein.
USH2A	Rs111033334	Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
USH2A	Rs111033367	An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
USP9Y	Rs3212292	Genetic variants of Y chromosome are associated with a protective lipid profile in black men.
USP9Y	Rs2032598	MEGF10 association with schizophrenia.
USP9Y	Rs2032597	Association of Y chromosome haplogroup I with HIV progression, and HAART outcome.
USP9Y	Rs2032598	FBXL21 association with schizophrenia in Irish family and case-control samples.
VCAN	Rs173686	A study of 240 Chinese Han nationality patients with at least one intracranial aneurysm and matched controls did not replicate this result.Note: the dbSNP sequence entry for this SNP represents the noncoding strand, and is thus the reverse complement compared to the SNP as referred to in.
VCAN	Rs251124	Failed to reproduce evidence of intracranial aneurysms in a Han Chinese population journal rs251124 (OR=1.43,95% CI=1.09 to 1.88, P=0.008) disruption of the extracellular matrix (ECM) of the arterial wall and is a likely factor in the pathogenesis of intracranial aneurysms (IAs).
VCAN	Rs80356553	Clinical characterisation and molecular analysis of Wagner syndrome.
VCAN	Rs80356554	Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
VCAN	Rs80356555	Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
VDR	Rs2228570	Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.
VDR	Rs3847987	The SNP is a cytosine-to-adenine switch, and men with two copies of the adenine variant were more likely to develop COPD.
VDR	Rs2239186	Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.
VDR	Rs2238135	rs2238135 is a SNP in the vitamin D VDR receptor gene. rs2238135 (G;G) homozygotes were associated with an ~2.5x higher risk of prostate cancer compared to homozygote carriers of the more common (C) allele in the 630 Caucasian patients studied.
VDR	Rs10735810	Vitamin D metabolism rs10735810 increases susceptibility to Idiopathic short stature 1.33 times for heterozygotes (AG) and 1.90 times for homozygotes (GG) rs10735810 increases susceptibility to Osteonecrosis in acute lymphoblastic leukemia 3.93 times for heterozygotes (AG) and 6.56 times for homozygotes (GG) rs2228570 aka rs10735810 allele (A) observed for breast cancer odds ratio (OR) of 1.26.
VDR	Rs2107301	rs2107301 is a SNP in the vitamin D VDR receptor gene. rs2107301 (T;T) homozygotes were associated with an ~2.5x higher risk of prostate cancer compared to homozygote carriers of the more common (C) allele in the 630 Caucasian patients studied.
VDR	Rs1544410	Additionally, A meta-analysis of 26 studies estimated a decreased risk of osteoporosis associated with the G;G genotype with an odds ratio of 0.61, 95% CI, 0.40-0.92. rs1544410 increases susceptibility to Shorter stature for carriers of the A allele.
VEGFA	Rs3025039	Polymorphism in the vascular endothelial growth factor A (VEGFA) gene is associated with serum VEGF-A level and disease activity in rheumatoid arthritis: differential effect of cigarette smoking.
VEGFA	Rs3025039	Interaction between smoking and polymorphism in the promoter region of the VEGFA gene is associated with ischemic heart disease and myocardial infarction in rheumatoid arthritis.
VEGFA	Rs833061	Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.
VEGFA	Rs699947	rs699947 (-2578C>A) is a SNP within close proximity of VEGFA (Vascular endothelial growth factor A).The A allele of rs699947 increased a risk for thyroid cancer (adjusted OR=1.36, 95% C.I=1.02~1.81, P=0.039) and regional lymph node metastasis only in men.
VEGFA	Rs833069	Identification of genes and haplotypes that predict rheumatoid arthritis using random forests.
VEGFA	Rs833070	Individuals with the CC genotype at rs833070 and rs2146323 displayed smaller hippocampal volumes than T-allele and A-allele carriers, respectively.
VEGFA	Rs3025039	Vascular endothelial growth factor gene polymorphisms and rheumatoid arthritis.
VEGFA	Rs833068	Contribution of VEGF polymorphisms to variation in VEGF serum levels in a healthy population.
VEGFA	Rs25648	Human genetics of diabetic retinopathy: current perspectives.
VEGFA	Rs25648	A systematic meta-analysis of genetic association studies for diabetic retinopathy.
VEGFA	Rs2010963	Polymorphism in the vascular endothelial growth factor A (VEGFA) gene is associated with serum VEGF-A level and disease activity in rheumatoid arthritis: differential effect of cigarette smoking.
VEGFA	Rs2010963	Vascular endothelial growth factor A and cardiovascular disease in rheumatoid arthritis patients.
VEGFA	Rs2010963	Interaction between smoking and polymorphism in the promoter region of the VEGFA gene is associated with ischemic heart disease and myocardial infarction in rheumatoid arthritis.
VEGFA	Rs2010963	Vascular endothelial growth factor gene polymorphisms and rheumatoid arthritis.
VEGFA	Rs2010963	Analysis of vascular endothelial growth factor (VEGF) functional variants in rheumatoid arthritis.
VEGFA	Rs1570360	Vascular endothelial growth factor A and cardiovascular disease in rheumatoid arthritis patients.
VEGFA	Rs1570360	Analysis of vascular endothelial growth factor (VEGF) functional variants in rheumatoid arthritis.
VEGFA	Rs13207351	Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.
VEGFA	Rs13207351	VEGF polymorphisms are associated with severity of diabetic retinopathy.
VHL	Rs193922608	Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
VHL	Rs193922613	Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.
VHL	Rs28940298	Role of VHL gene mutation in human cancer.
VKORC1	Rs9934438	Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic far wall compared to CC homozygous persons.
VKORC1	Rs1057910	Note however that the / CPIC (and FDA) recommend testing for the HLA-B 15:02 allele, since carriers are at significantly increased risk of Stevens-Johnson syndrome (SJS/PTEN).
VKORC1	Rs8050894	Warfarin dose and INR related to genotypes of CYP2C9 and VKORC1 in patients with myocardial infarction.
VLDLR	Rs1454626	Associated with carotid artery disease, BMI, and LDL-associated apolipoprotein B.
VPS35	Rs146795505	ORC6 gene, c.2T>C (p.Met1Thr) The minor allele is reported in ClinVar as pathogenic for Meier-Gorlin syndrome 3, apparently based on a single report; the condition is normally recessively inherited.
VPS35	Rs797044948	C.1463A>G (p.Gln488Arg) Reported as a disease causing mutation in ClinVar, however, only as an unspecified inborn genetic disease, with autosomal dominant inheritance.
VPS53	Rs587777465	VPS53 mutation, known as c.2084A>G (p.Gln695Arg), leading to Pontocerebellar hypoplasia type 2E.
VPS53	Rs587777466	VPS53 mutation, known as c.1556+5G>A, leading to Pontocerebellar hypoplasia type 2E.
VWF	I5049338	rs62643630 Von Willebrand disease.
VWF	I5049282	rs1800386 Von Willebrand disease.
VWF	I5049289	rs61748478 Von Willebrand disease.
VWF	I5049314	rs61750630 Von Willebrand disease.
VWF	I5049327	rs61749392 Von Willebrand disease.
VWF	I5049344	rs267607353 Von Willebrand disease.
VWF	I5049266	rs61750579 Von Willebrand disease.
VWF	Rs121964895	rs121964895, also known as Vicenza, c.3614G>A, p.Arg1205His and R1205H, is a SNP in the VWF gene on chromosome 12.The rare rs121964895 (A) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.This SNP is also referred to as i3002797 and i5049161 by 23andMe.
VWF	Rs1800386	This may be due to associations with blood group type O and increased proteolysis of VWF by ADAMTS13.This SNP is referred to as i3002455 and i5049282 by 23andMe.
VWF	Rs2363337	rs2363337, also known as c.3379+1G>A, is a SNP in the VWF gene on chromosome 12.The rarer rs2363337 (T) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.
VWF	Rs267607326	rs267607326, also known as c.3437A>G, p.Tyr1146Cys and Y1146C, is a SNP in the VWF gene on chromosome 12.The rare rs267607326 (G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.
VWF	Rs33978901	Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in individuals with a second VWF mutation and it also contributes to population variance in VWF and FVIII levels according to a 2010 publication.This SNP is referred to as i5049145 by 23andMe.
VWF	I5049228	rs61750612 Von Willebrand disease.
VWF	Rs121964894	rs121964894, also known as c.2446C>T, p.Arg816Trp and R816W, is a SNP in the VWF gene on chromosome 12.The rare rs121964894 (T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.This SNP is also referred to as i5049115 by 23andMe.
VWF	I5049208	rs61753993 Von Willebrand disease.
VWF	I5049192	rs61749372 Von Willebrand disease.
VWF	I5049172	rs61750581 Von Willebrand disease.
VWF	I5049165	rs61749397 Von Willebrand disease.
VWF	I5049161	rs121964895 Von Willebrand disease.
VWF	I5049157	rs61749398 Von Willebrand disease.
VWF	I5049145	rs33978901 Von Willebrand disease.
VWF	I5049144	rs41276738 Von Willebrand disease.
VWF	I5049117	rs61750117 Von Willebrand disease.
VWF	I5049115	rs121964894 Von Willebrand disease.
VWF	I5049104	rs61750595 Von Willebrand disease.
VWF	I5049076	rs61750584 Von Willebrand disease.
VWF	I5049057	rs61748477 Von Willebrand disease.
VWF	I5039483	rs62643632 Von Willebrand disease.
VWF	I5039448	rs61750591 Von Willebrand disease.
VWF	I5004518	rs61748511 Von Willebrand disease.
VWF	I3002797	rs121964895 Von Willebrand disease.
WFS1	Rs28937893	Deafness.
WFS1	Rs28937894	Deafness.
WFS1	Rs28937895	Deafness.
WFS1	Rs4458523	rs4458523 is in linkage disequilibrium with a polymorphism that increases susceptibility to Type II Diabetes 1.16 times for carriers of the G allele.
WRN	Rs113993961	rs113993961 is a rare transversion in the WRN gene that results in a frameshift of codons 1078 to 1092 due to a change in a splice donor sequence, leading to the recessive disorder known as Werner Syndrome.
WRN	Rs17847577	rs17847577, also known as R368X, Arg368Ter, Arg369Ter, c.1105C>T or 1336C>T) represents the most common WRN mutation seen in Caucasians as well as all other non-Japanese populations, perhaps representing ~20% of all Werner Syndrome cases.
WRN	Rs1801195	Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM.
WRN	Rs2553268	Exercise systolic blood pressure, rs2553268 (WRN, p = 6.3 10 (-6) ).
WT1	Rs16754	Variants in the Wilms tumor gene are associated with focal segmental glomerulosclerosis in the African American population.
WT1	Rs16754	Wilms tumor 1 single-nucleotide polymorphism rs16754 does not predict clinical outcome in adult acute myeloid leukemia.
WT1	Rs28941778	rs28941778, also known as Asp396Asn or D396N, is a SNP in the WT1 gene on chromosome 11.This SNP is considered pathogenic (causal) for Denys-Drash syndrome, and may also be associated with nephrotic syndrome, type IV.See also OMIM 607102.0006This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
WT1	Rs28941779	rs28941779, also known as Phe392Leu or F392L, is a SNP in the WT1 gene on chromosome 11.A report links a mutation at this SNP to the rare disease known as Frasier syndrome, which has similarities to Denys-Drash syndrome, no doubt in part since both are based on mutations in the WT1 gene.See also OMIM 607102.0025This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
WWC1	Rs749318706	rs749318706 is a rare C>T mutation in the WWC1 gene on chromosome 1 which changes an Arg to a Stop codon.Although not implicated in any direct way as leading to Tourette syndrome, the rs749318706 (T) stop-gain mutation is one of two mutations listed in the WWC1 gene in a 2017 publication reporting that de novo likely gene-disrupting (LGD) variants in perhaps 400+ genes are associated with Tourette syndrome.
WWC1	Rs17070145	Caspase-1 genetic variation is not associated with Alzheimers disease risk.
WWC1	Rs17070145	Evidence for an association between KIBRA and late-onset Alzheimers disease.
WWC1	Rs17070145	Age-dependent association of KIBRA genetic variation and Alzheimers disease risk.
WWOX	Rs2548861	9,798 subjects show significant association between rs2548861 (T) and Low serum HDL-cholesterol, a major risk factor for coronary artery disease.
XIAP	Rs1085307106	OMIM pathogenic.
XIAP	Rs387907301	rs387907301, also known as c.608G>A, p.Cys203Tyr and C203Y, represents a rare mutation in the XIAP gene on the X chromosome.First published in 2011 based on the discovery in a young boy with symptoms of inflammatory bowel disease, the 387907301 (A) allele is now considered causative for X-linked lymphoproliferative syndrome when inherited in a male, and presumably if homozygous (or compound heterozygous) in a female.As one of the first successes of exome sequencing, the diagnostic and therapeutic odyssey of this boy, Nicholas (Nic) Volker, has been described in numerous publications, including the book / One in a Billion.
XPC	Rs2228000	This was primarily a risk for bladder cancer.
XPC	Rs2228001	This was primarily a risk for lung cancer.
XPC	Rs2470353	In vitro functional effects of XPC gene rare variants from bladder cancer patients.
XRCC1	Rs1799782	Pseudo-haplotype with AG-CC genotypes in 2.45x risk rs2040639 - rs861539 5.03x risk rs2040639 - rs861539 - rs2075685 10.10x risk rs2040639 - rs861539 - rs2075685 - rs1799782 A meta-analysis concludes that this SNP is not associated with risk of gastric cancer.
XRCC1	Rs25486	Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.
XRCC1	Rs25487	Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
XRCC1	Rs25489	Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.
XRCC1	Rs761564262	Aka NM_006297.2 (XRCC1) :c.1293G>C or (p.Lys431Asn) OMIM pathogenic variant.
XRCC2	Rs2040639	18067C>T possibly related to non-Hodgkin lymphoma rs2040639 -AG, contribute to oral cancer risk.
XRCC2	Rs3218536	The odds ratio for the His-encoding rs3218536 (A) allele carriers is homozygote is 0.79, CI: 0.62-1.00, p=0.05. rs3218536 (A) carriers also appear to be at lower risk for epithelial ovarian cancer.
ZFHX2	Rs1555344723	The mutation is inherited as an autosomal dominant, and the associated syndrome is currently called Marsili syndrome.See also OMIM 617828.0001.
ZNF365	Rs10995190	The researchers also found that each copy of an A at rs10995190 is also associated with slightly lower odds of developing breast cancerBreast Cancer Risk Modifiers.
ZNF365	Rs2944542	Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
ZNF365	Rs7089814	Breast size.
ZSWIM6	Rs587777695	rs587777695, also known as R1163W, is a mutation in the ZSWIM6 gene on chromosome 5.See OMIM 615951.0001.
ABCA1	Rs2066715	A survey of ABCA1 sequence variation confirms association with dementia.
ABCA1	Rs363717	A survey of ABCA1 sequence variation confirms association with dementia.
ABCA1	Rs4149274	C allele is associated with 1.51mg/dl increase in HDL cholesterol (good cholesterol).
ABCA12	Rs726070	Aka c.7093G>A (p.Asp2365Asn) The variant allele was reported over a decade ago as being a recessive mutation associated with a form of ichthyosis; however, more recent annotations have come to the conclusion that it is actually likely to be benign, in part since its seen far more frequently than would be expected given how rare the actual condition is.
ABCA3	Rs149989682	rs149989682, also known as c.875A>T, p.Glu292Val and E292V, represents a rare mutation in the ABCA3 gene on chromosome 16.Inherited as an autosomal recessive, the rs149989682 (A) allele - as oriented in dbSNP orientation - is considered pathogenic in ClinVar (and BabySeq) for surfactant metabolism dysfunction, pulmonary, type 3, a disorder involving severe neonatal distress that often results in the death of a newborn within the first month.Note potential for ambiguous flip confusion.
ABCA7	Rs115550680	The deleted allele could result in defective protein function and be an ethnic-specific pathogenic alteration.
ABCB1	Rs4148740	A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs4148740	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs4148739	A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs4148739	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs4148739	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not. rs4148739 is one of 9 SNPs found within a tight linkage block (r<sup>2</sup> >= 0.8 ) such that the minor allele at any one of them predicts (with ~80%+ accuracy) that the other SNPs will also be the minor allele.
ABCB1	Rs4148740	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not.
ABCB1	Rs2235015	However, this result could not be reproduced in a large (N~900) trial with outpatients with major depression treated with the ABCB1 substrate citalopram (STAR-D study, level 1).
ABCB1	Rs2032583	Clinical studies on antidepressant drug dosage, plasma medication levels and treatment outcome suggest monotonic associations for tricyclic antidepressant drugs and threshold models or higher order relationships for selective serotonin reuptake inhibitors and newer antidepressant drugs,.
ABCB1	Rs11983225	A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis failed to replicate several Uhr et al.
ABCB1	Rs3789243	A Danish case-control study comprising 373 Crohns disease and 541 ulcerative colitis patients (and 796 healthy controls) concluded that carriers of the homozygous COX-2 and MDR1 intron 3 variant ( rs3789243 ) had a relatively high risk of CD, odds ratio (95% CI) (OR (95% CI) ) =2.86 ( (1.34-5.88) p=0.006) and 1.39 ( (0.99-1.92) p=0.054), respectively, and for UC of 2.63 ( (1.33-5.26) p=0.005) and 1.28 ( (0.96-1.51) p=0.093), respectively, assuming complete dominance.
ABCB1	Rs11983225	The list of the 9 SNPs is shown below.When treated for depression with citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.
ABCB1	Rs11983225	According to a recent review, ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not.
ABCC11	Rs17822931	This does not hold true in Caucasian women, though./ reddit discussion.
ABCC2	Rs3740065	Curiously, no significant difference in plasma levels of the tamoxifen metabolites endoxifen or 4-hydroxytamoxifen were seen.This same study of tamoxifen users concluded that rs3740065 (T;T) patients who also had two CYP2D6 risk alleles had a 45 fold higher risk of recurrence than patients with zero or one (out of the possible four) risk alleles.
ABCC2	Rs3740066	ICP is associated with increased fetal risks such as premature birth or intrauterine death.The risk allele is rs3740066 (A), and the odds ratio for homozygous rs3740066 (A;A) mothers is 4.44 (CI: 1.83 - 10.78), and for heterozygous mothers 1.65 (CI: 0.76 - 3.64), compared to rs3740066 (G;G) mothers.
ABCC8	Rs137852676	Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
ABCC9	Rs11046205	A K (ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
ABCD1	Rs193922094	Aka c.1592T>C (p.Leu531Pro) Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD). however, this mutation is not listed in the ALD Mutation Database.
ABCD1	Rs398123113	Aka c.614C>A (p.Ala205Glu) Note that c.614C>T is listed as a variant of uncertain significance in the ALD Mutation Database.
ABCG2	Rs2199936	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
ABCG2	Rs72552713	Both ABCG2 SNPs are, however, associated with the ROL gout subtype, defined as when urinary urate excretion (UUE) is over 25.0 mg/h/1.73 m2 (600 mg/day/1.73 m2) and urate clearance (urate clearance/creatinine clearance ratio, FEUA) is 5.5% or over.
ABCG8	Rs6544713	Per the / 23andMe blog, the minor allele of this SNP (T) was associated with increased LDL cholesterol {| border=1|-!SNP!Rarer allele!LDL!HDL!TG|-| rs6544713 || T || + || |||-| rs2650000 || A || + || |||-| rs471364 || C || || - |||-| rs1800961 || T || || - |||-| rs7679 || C || || - || +|-| rs2967605 || T || || - |||-| rs2409722 || T || || || -|-| rs10903129 || A || - || - || -|-| rs6756629 || A || - || + || -|-| rs12670798 || C || + || + || +|-| rs7395662 || A || - || + || +|-| rs174570 || T || - || - || +|-| rs2271293 || A || - || + || -|-| rs2624265 || C || || || +|-| rs2167079 || T || || + |||-| rs9891572 || T || || + |||-| rs4844614 || T || + || |||-| rs5031002 || G || + || |||-|} Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
ABO	Rs8176720	Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.
ACADM	I5012759	Medium-Chain Acyl-CoA Dehydrogenase Deficiency rs77931234.
ACADM	I5012760	Medium-Chain Acyl-CoA Dehydrogenase Deficiency rs373715782.
ACADM	I5012755	Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
ACADM	I5012758	Medium-Chain Acyl-CoA Dehydrogenase Deficiency rs121434280.
ACE	Rs4344	This SNP in the ACE gene, also known as G12269A, is reported to influence how quickly African Americans respond to the anti-hypertensive drug ramipril.
ACE	Rs4646994	Could represent a gene modulator of carbohydrate intake in morbidly obese Czech population; the strong significant effect of DD genotype was observed in the phenotypes of extreme obesity with the highest carbohydrate intake.
ACKR1	Rs34599082	This allele results in lower amounts of DARC protein, and thus lower antigen expression and chemokine binding ability.This variant may offer some protection against infection by malaria.
ADCY5	Rs9883204	Replication of a genome-wide association study of birth weight in preterm neonates.
ADH1B	Rs2066702	Association was strongest with the ICD-10 definitions of alcoholism, with P=0.046 for PDTsum and 0.029 for PDTaverage; it was also significant for DSM-IV for PDTaverage (P=0.039).
ADH1B	Rs2066702	Some African American and Native American populations, the ADH1B 3 allele (Arg369Cys in exon 9) is correlated with protection against alcoholism.
ADIPOQ	Rs17366743	This 2008 article found that the minor C allele of rs17366743 had a hazard ratio of 1.94 for incident diabetes (95% CI 1.16–3.25; Pn = 0.01) .
ADIPOQ	Rs2241766	After categorizing individuals by adiponectin signaling status, this study found that compared with low signalers (the most frequent), intermediate signalers had a 0.64x decrease in breast cancer risk (CI: 0.49–0.83), and high signalers had a 0.15x lower breast cancer risk (CI: 0.02–1.28, p (trend) = 0.001).Adiponectin signaling status was assigned as follows (as oriented in dbSNP) : rs1501299 (C,C) + rs2241766 (T,T) = low signaler<br> rs1501299 (A,C) + rs2241766 (T,T) = low signaler<br> rs1501299 (C,C) + rs2241766 (G,T) = low signaler<br> rs1501299 (A,A) + rs2241766 (T,T) = intermediate signaler<br> rs1501299 (A,C) + rs2241766 (G,T) = intermediate signaler<br> rs1501299 (C,C) + rs2241766 (G,G) = intermediate signaler<br> rs1501299 (A,C) + rs2241766 (G,G) = high signaler<br> rs1501299 (A,A) + rs2241766 (G,G) = high signaler<br> rs1501299 (A,A) + rs2241766 (G,T) = high signaler<br>Based on these criteria, adiponectin signaling status is now determined by genosets Gs325 and Gs326 for Promethease users.Note that adiponectin, a hormone produced by adipose tissue (body fat), is involved in lipid metabolism.In other words, you are a low adiponectin signaler, and thus have basically average breast cancer risk, if you have one of these combinations of alleles: rs1501299 CC and also rs2241766 either GT or TT rs1501299 AC and also rs2241766 TTYou are an intermediate adiponectin signaler (Gs325), and thus possibly at 0.64x reduced risk of breast cancer compared to low signallers, if you have one of these combinations of alleles: rs1501299 CC and also rs2241766 GG rs1501299 AC and also rs2241766 GT rs1501299 AA and also rs2241766 TTYou are a high adiponectin signaler (Gs326), and thus have the lowest (perhaps 0.15x) risk if you have one of these combinations of alleles: rs1501299 AC and also rs2241766 GG rs1501299 AA and also rs2241766 either GG or GT.
ADIPOQ	Rs266729	rs266729 is a SNP in the adiponectin ADIPOQ gene that may help elucidate correlations between obesity and some types of cancer.Two case-control studies including colorectal cancer patients and controls were conducted; the first case involving 441 patients and 658 controls, all of Ashkenazi Jewish ancestry, and the second including 199 patients and 199 matched (sex, age and ethnicity) controls.
ADIPOQ	Rs266729	rs266729 (G) showed decreased colorectal cancer risk in both studies; in the first, with an odds ratio of 0.72 (CI:0.55-0.95) and in the second, with an odds ratio of 0.52 (CI: 0.34-0.78).
ADIPOQ	Rs266729	Combining the two studies led to an overall decreased colorectal cancer odds ratio of 0.73 (CI: 0.53-0.99) for this allele./ 23andMe blog obesity and colorectal cancer (G;G) 27% lower odds.
ADIPOQ	Rs822391	Association of the adiponectin gene variations with risk of ischemic stroke in a Korean population.
ADIPOQ	Rs822393	rs822393 is a SNP in the adiponectin ADIPOQ gene.Based on a study of ~600 probands, siblings, and parents, rs822393 was significantly associated with insulin sensitivity in Caucasians even after corrections to account for multiple testing and the linkage disequilibrium structure of nearby genes.
ADRB2	Rs17334242	Asthma related.
ADRB2	Rs1800888	The presence of the rs1800888 (T) allele was associated with a higher incidence of acute myocardial infarction (54.5% vs. 25.2%, p = 0.035) or combined events (acute myocardial infarction, PCI, or coronary artery bypass graft) (63.6% vs. 30.9%, p = 0.027).
AGT	Rs5051	Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
AGTR1	Rs5186	Age and gender may also influence risk, as discussed in a review of AGTR1 SNPs and their role in hypertension and related disorders.Pregnant women who are rs5186 (C) allele carriers are more likely to develop pregnancy-induced hypertension.However, rs5186 does not appear to modify risk for developing coronary heart disease (CHD).
AHCY	Rs13043752	Minor allele should be reclassified as benign according to.
AHSG	Rs201849460	OMIM pathogenic variant.
AHSG	Rs4918	Category:is a snp Homozygosity for the rs2593813 :G- rs4917 :Met- rs4918 :Ser haplotype conferred an increased risk for leanness.
AIP	Rs267606559	OMIM pathogenic variant.
AIP	Rs267606567	OMIM pathogenic variant.
AIP	Rs267606555	OMIM pathogenic variant.
AKT1	Rs3803304	The authors postulate that rs3803304 s effects may result from disruptions with an RNA regulatory mechanism, based upon its close proximity to a conserved exon-intron boundary in an area of high predicted regulatory potential.
ALB	Rs76285851	Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin.
ALB	Rs72552710	Effect of genetic variation on the thermal stability of human serum albumin.
ALDH7A1	Rs864622558	Aka c.986G>A (p.Arg329Lys) 23andMe name: i709034.
ALDOB	Rs185972191	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ALDOB	Rs387906225	Aka c.360_363delCAAA (p.Asn120Lysfs).
ALDOB	Rs78340951	Aka c.1005C>G (p.Asn335Lys) FTDNA & MyHeritage name: VG09S52451.
ALOX5AP	Rs17216473	rs17216473, also known as SG13S377, is an ALOX5AP gene SNP that has been defined as part of a haplotype potentially associated with risk for myocardial infarction or ischemic stroke.
ALOX5AP	Rs9579646	Association of ALOX5AP with ischemic stroke: a population-based case-control study.
ALPL	I6006947	I6006947, also known as c.526G>A or p.A176T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I6006944	I6006944, also known as c.331G>A or p.A111T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the odonto form of hypophosphatasia.
ALPL	I6006962	I6006962, also known as c.1144G>A or p.V382I, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I6007004	I6007004, also known as c.977G>T or p.G326V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6007018	I6007018, also known as c.662G>T or p.G221V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I6006895	I6006895, also known as c.215T>C or p.I72T, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the odonto form of hypophosphatasia.
ALPL	I6006890	I6006890, also known as c.1112C>T or p.T371I, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
ALPL	I6006925	I6006925, also known as c.550C>T or p.R184W, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002758	I5002758, also known as c.746G>T or p.G249V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
ALPL	I5002769	I5002769, also known as c.1306T>C or p.Y436H, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I5002770	I5002770, also known as c.98C>T or p.A33V, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.
ALPL	I5012684	I5012684, also known as c.571G>A or p.E191K, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia. rs121918007 is the dbSNP name for this SNP.
ALPL	I5012686	I5012686, also known as c.1559delT or p.L520RfsX86, is a SNP in the ALPL gene on chromosome 1.Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia. rs387906525 appears to be the dbSNP name for this SNP.
AMPD1	Rs17602729	Similarly, C34T heterozygotes with coronary artery disease seem to fare better than wild-type homozygotes.
ANK2	Rs121912705	A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
ANO5	Rs372221490	Aka c.762+1G>A.
ANXA11	Rs2789679	499 German individuals with sarcoidosis and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls.
ANXA11	Rs2789679	rs2789679 : P = 3.0 x 10 (-13), rs7091565 : P = 1.0 x 10 (-5) rs1049550, T > C, R230C was found to be strongly associated with sarcoidosis.
ANXA11	Rs2789679	A common nonsynonymous SNP ( rs1049550, T > C, R230C) was found to be strongly associated with sarcoidosisNote that several ANXA11 SNPs are all tightly linked: rs1953600, rs2573346, rs2784773 and rs1049550.
APC	Rs1801155	/ APC I1307K and Colorectal Cancer - Johns Hopkins Hereditary Colorectal Cancer Website Cancer.net: Familial Adenomatous Polyposis.
APC	Rs587782557	In 2007, a publication showed based on two large AFAP kindreds that this mutation was linked back to a founding couple who came to America from England around 1630, and who in modern day America are likely to have many descendants, including several current kindreds among Mormons in Utah.A magazine article focusing primarily on the historic use of Mormon genealogical records to uncover this mutation was published / here in 2017.
APOB	Rs5742904	This variant is considered to the most frequent APOB gene FH mutation in Caucasians.For a clinical case discussion of this SNP, see Clinical Case 2 within Box 1 of.Familial Hypercholesterolemia Type B.
APOC3	Rs5128	rs5128 (C3238G/3238C>G) is a SNP within the 3 UTR of APOC3 (Apolipoprotein C3).
APOE	Rs1799724	Pretty low on the 0-10 magnitude scale).In a Chinese study, post-menopausal women were significantly more likely to have low bone mineral density if they had CC-AA genotypes in rs1799724 - rs1800629 a haplotype of rs1799724 - rs1800629 - rs6254 - rs6256 -IL-1ra- rs2227956 - rs1801197 news cigarette smoking and gastric cancer risk.
APOE	Rs28931576	The ancestral allele is A.
APOE	Rs769452	Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
APP	Rs193922916	rs193922916, also known as c.2018C>T, p.Ala673Val and A673V, represents a rare mutation in the APP gene on chromosome 21.Most APP mutations leading to Alzheimers disease are inherited dominantly, but A673V is an exception, as it appears to be inherited recessively.
APP	Rs532876832	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
APP	Rs63749810	rs63749810, also known as c.2080G>A, p.Asp694Asn and D694N, represents a rare mutation in the APP gene.Known originally as the Iowa mutation, and inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimers disease or cerebral amyloid angiopathy.
APP	Rs63749810	More information can be found in ClinVar and in the AlzForum.Reported in as a definitely pathogenic mutation for early-onset Alzheimers disease.
APP	Rs63750643	rs63750643, also known as c.2140A>G, p.Thr714Ala or T714A, represents a rare mutation in the APP gene.Inherited dominantly, the rare minor allele is considered pathogenic for Alzheimers disease; for more information, see OMIM, ClinVar or AlzForum.
ARSA	Rs28940893	Aka c.1283C>T (p.Pro428Leu or P428L) rs28940893 and rs80338815 are considered the two most frequent variants associated with metachromatic leukodystrophy in Caucasians.23andMe name: i5012765.
ASL	Rs138310841	C.331C>T, p.Arg111Trp or R111Wpathogenic for argininosuccinate lyase deficiency, according to.
ASL	Rs767543051	C.337C>T, p.Arg113Trp or R113Wpathogenic for argininosuccinate lyase deficiency, according to.
ASPA	Rs28940279	This suggests that it is a newer variant than others found in the more broad European population.
ASS1	Rs121908641	Aka c.1168G>A (p.Gly390Arg Or G390R).
ATM	Rs664143	Also, as 1 of 3 SNPs its risk allele is associated with poorer overall survival for pancreatic cancer patients being treated with combined gerncitabine radiation therapy; median overall survival times of 31.0, 16.2, and 10.5 months were calculated for pancreatic cancer patients carrying < or = 1, 2, and 3 risk alleles from rs664143 (C), rs2227928 (C), and rs521102 (T;T), respectively (P=0.004).
ATM	Rs4986761	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (C).Another large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.
ATM	Rs3218707	This SNP, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
ATM	Rs3218707	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (C).
ATP13A2	Rs3738815	ATP13A2 variability in Parkinson disease.
ATP13A2	Rs587776890	C.2552_2553delTT (p.Phe851Cysfs).
ATP7B	Rs121907996	Aka c.2906G>A (p.Arg969Gln or R969Q).
BARD1	Rs28997576	rs28997576, aka Cys557Ser or C557S, is a missense variant in the BRCA1 associated RING domain 1 BARD1 gene on chromosome 2.
BCAM	Rs3810141	Aka c.711C>A (p.Cys237Ter). note a benign, synonymous variant, c.711C>T, is also knownLutheran Null blood group mutation23andMe name for c.711C>A variant: i5000663.
BCHE	Rs1799807	Many nerve agents, such as Sarin and VX gas, as well agents used to protect soldiers against them, such as pyridostigmine, are CIs.
BCHE	Rs201820739	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
BCHE	Rs28933390	(T;T) abolishes catalytic activity in BCHE according to annerwrightPseudocholinesterase Deficiency.
BCKDHB	Rs28934895	However, by itself the mutation does not predict the severity of the disease; note also that only homozygotes ( rs28934895 (C;C) ) are at risk for the disease.This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.Note also that 23andMe uses a different name for this SNP; in their terminology, rs28934895 is called i3002808.
BCR	Rs3313172	The odds ratio for carriers of the minor allele (C) are reported as 1.28 (p=0.031) based on a study of 329 Japanese patients.
BCR	Rs2267012	rs2267012, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for depression.
BCS1L	Rs28937590	rs28937590, also known as Ser78Gly or S78G, is a SNP in the BC1 (ubiquinol-cytochrome c reductase) synthesis-like BCS1L gene.The rare rs28937590 (G) allele which is (when present in two copies) causative for GRACILE syndrome is thought to be a founder mutation found primarily in those of Finnish ancestry.23andMe reports on this SNP under the term i5012660.
BHLHE41	Rs121912617	This is classified as a sleep disorder, although it does not appear to have any known negative medical consequence.The correlation between P384R and FNSS was first reported in 2009.
BLM	Rs113993962	rs113993962 is a variant in the RECQL3 gene causing Bloom syndrome, and this particular SNP accounts for >95% of such cases in the Ashkenazi population.
BLOC1S3	Rs281865115	OMIM pathogenic variant.
BMP2	Rs15705	Differences in fat and muscle mass associated with a functional human polymorphism in a post-transcriptional BMP2 gene regulatory element.
BRAF	Rs180177034	Aka c.736G>C (p.Ala246Pro) 23andMe name: i5000379.
BRCA1	Rs80357607	rs80357607, also known as 2634delC, c.2515_2515delC and p.His839Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357618	rs80357618, also known as 1135delA, c.1016_1016delA and p.Lys339Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357662	rs80357662, also known as 1675delA, c.1556_1556delA and p.Lys519Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357669	It is considered a pathogenic mutation.
BRCA1	Rs80357601	rs80357601, also known as 3121delA, c.3002_3002delA and p.Glu1001=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357724	rs80357724, also known as c.787+12del, c.787+10dup, c.798_799del, 917delTT, c.798_799delTT and p.Val266_Ser267ValLysfs, all of which are variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357774	rs80357774, also known as 1137delG, c.1018_1018delG and p.Val340Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357787	rs80357787, also known as 4239delAG, c.4120_4121delAG and p.Ser1374Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357854	rs80357854, also known as 4601delAA, c.4482_4483delAA and p.Glu1494_Arg1495GluValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357877	rs80357877, also known as 3600del11, c.3481_3491delGAAGATACTAG and p.Glu1161_Ser1164?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357916	rs80357916, also known as 4510delC, c.4391_4391delC and p.Pro1464Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80358047	rs80358047, also known as c.547+2T>A, is a mutation in the BRCA1 gene reported by multiple sources to be clinically significant (in terms of pathogenicity) for breast cancer./ ClinVar23andMe name: i5009552.
BRCA1	Rs80359872	rs80359872, also known as 1071del64, c.952_1015del and p.His318_Lys339?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80359876	rs80359876, also known as 5083del19, c.4964_4982del and p.Ser1655_Glu1661?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357321	rs80357321, also known as Y261X, c.783T>G and p.Tyr261Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i5010292.
BRCA1	Rs80357463	23andMe name: i5010039.
BRCA1	I5009624	rs80357856 breast cancer.
BRCA1	Rs28897696	An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association.
BRCA1	Rs28897696	Although the clinical importance has not been proven, this may still be of use for genetic counseling.More recently, multiple genetic testing labs have reported the rare allele of this SNP to be pathogenic for breast cancer in ClinVar.This mutation is considered a founder mutation in the Columbian Hispanic population.
BRCA1	Rs16942	This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA1	Rs41293455	Another variant, rs41293455 (G), encodes a Gly (aka c.4327C>G or p.Arg1443Gly). this variant appears to be benign by consensus in ClinVar.A well known study published in 1994 looked at 50 family pedigrees with breast cancer and ovarian cancer susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations.
BRCA1	Rs80357069	C.5363G>T (p.Gly1788Val).
BRCA1	Rs80357055	rs80357055, also known as S1796X, c.5387C>A and p.Ser1796Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357254	rs80357254, also known as K1290X, c.3868A>T and p.Lys1290Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80357018	rs80357018, also known as E1134X, c.3400G>T and p.Glu1134Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA1	Rs80356898	rs80356898, also known as Q563X, c.1687C>T and p.Gln563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.23andMe name: i6051897.
BRCA1	Rs4986852	The more common rs4986852 (G) allele encodes Ser, while the rare rs4986852 (A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N.A well known study published in 1994 looked at 10 family pedigrees with breast cancer and ovarian cancer susceptibility, including 63 breast cancer patients, and discovered what they believed were seven putative disease-causing mutations.
BRCA1	Rs45553935	There are breast cancer patients harboring the BRCA1 V1736G mutation, but to our knowledge, to date there is no pedigree or other direct evidence confirming pathogenicity.
BRCA1	Rs80357021	rs80357021, also known as E1339X, c.4015G>T and p.Glu1339Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
BRCA2	Rs144848	This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA2	Rs1799944	Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
BRCA2	Rs766173	This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer.
BRCA2	Rs766173	For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.For this particular SNP, the risk (minor) allele is (G).
BRIP1	Rs574552037	Aka c.2400C>G (p.Tyr800Ter or Y800X), and also c.2400C>T (p.Tyr800=). the former is considered in ClinVar to be pathogenic for ovarian cancer, while the latter is benign.
BRIP1	Rs2191249	The rare allele of rs2191249 is associated with a poorer prognosis (hazard ratio per minor allele, 1.20; 95% CI, 1.07-1.36; P trend = 0.002) for breast cancer.
BRIP1	Rs34289250	This SNP is often associated with ovarian cancer in Icelandic women, according to DeCode, however it appears to only due to linkage disequilibrium, the causitive mutation is a more rare indel which does not (yet) have an rs# assigned.
BRIP1	Rs587780240	Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in.
BTD	Rs119103232	Aka c.100G>A (p.Gly34Ser or G34S) Conflicting interpretations exist for this variant; an older (1997) paper first reported it as pathogenic for biotinidase deficiency, and so does a newer (2017) ClinVar submitter as well as some prediction software, but the latest ClinVar submitter (as of 2018) considers it to be a variant of uncertain significance (though without explaining why).
BTD	Rs146011150	Minor allele should be reclassified as benign according to.
BTD	Rs34885143	Minor allele should be reclassified as benign according to.
BTK	Rs128620187	Mutation pattern in the Brutons tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
BTK	Rs128620187	Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
BTK	Rs128620187	Identification of mutations of Brutons tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
C3	Rs2250656	Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome.
C5	Rs17611	Although rs17611 was the only SNP to remain significant after multivariate analysis (odds ratio 0.585, p = 0.0037) in a study of 459 patients, ROC curve analysis did not show any contribution of this SNP to overall stroke risk.
CACNA1C	Rs216013	Influences warfarin dose.
CACNA1S	Rs2281845	The authors note that while the phenotype of mature teeth was measured here, the SNPs could in fact correlate better with measures of puberty such as &#8220;skeletal maturation, Tanner score and growth spurt,&#8221; with number of mature teeth simply as a manifestation of these other phenotypes.
CACNA1S	Rs80338778	Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
CACNB2	Rs7069923	Systolic blood pressure being the quantitative trait associated with in.
CARD14	Rs387907240	rs387907240, also known as c.467T>C, p.Leu156Pro and L156P, represents a very rare mutation in the CARD14 gene on chromosome 17.Found through sequencing of 2 unrelated 3-generation families with autosomal dominant pityriasis rubra pilaris, the rs387907240 (C) mutation is considered causative for the condition.
CARD14	Rs587777763	rs587777763, also known as c.349+5G>A, represents a rare mutation in the CARD14 gene on chromosome 17.This SNP is one of three CARD14 gain-of-function mutations found through sequencing families exhibiting autosomal dominantly inherited psoriasis.
CASP8	Rs3769827	Polymorphisms and haplotypes in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer: a population-based, case-control study in a Chinese population.
CAV3	Rs116840802	A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
CBS	Rs234706	Some individuals believe it leads to upregulation of the CBS gene, and (eventually) an overproduction of ammonia and/or a decrease in glutathione.
CBS	Rs1801181	Being investigated in Ehlers-Danlos syndrome.
CBS	Rs2298758	Being investigated in Ehlers-Danlos syndrome.
CBS	Rs117687681	Minor allele should be reclassified as benign according to.
CCL11	Rs1129844	The only coding SNP in this protective haplotype associated with delayed AD onset was rs1129844.
CCL11	Rs1129844	The only SNP within a coding region of a gene in this protective haplotype associated with delayed AD onset was rs1129844, The protective haplotype occurred in 1 in 4 carriers; the A allele also occurs with a frequency of approximately 25%.
CCL11	Rs1129844	A follow-on study confirmed the protection of rs1129844 in 152 AD patients.
CCL2	Rs1024611	Monocyte chemoattractant protein-1 in schizophrenia: -2518A/G genetic variant and protein levels in Armenian population.
CCM2	Rs797044623	Aka c.30+5_30+6delGCinsTT.
CCR5	I3003626	DD Delta32/Delta32: Resistant to infection by the most common strain of HIV people usually encounter, though protection is not complete.Resistance to HIV/AIDS.
CCR5	I3003626	II +/+: Not resistant to HIV infection; shows average time of progression to AIDS after infection.
CCR5	I3003626	DI Delta32/+: Not resistant to HIV infection but may have slower progression to AIDS after infection.
CD244	Rs3766379	Two SNPs on ch 1q in the CD244 gene, rs3766379 and rs6682654, were found to be associated with risk for rheumatoid arthritis in two independent Japanese cohorts (p = 3.23 x 10e-8) and p = 7.45 x 10e-8).
CD320	Rs150384171	OMIM pathogenic variant.
CD44	Rs187116	rs187116, also known as +4883G>A, is a SNP in the CD44 gene.A presentation at the 2010 American Society of Clinical Oncology meeting based on ~100 patients reported this SNP as being significantly associated with more aggressive gastric cancer.
CD44	Rs1467558	See also: / 23andMe blogNote: the orientation of this SNP in SNPedia is as detailed in dbSNP, but in publications (including 23andMes blog) the orientation is flipped, so whats (A;A) in dbSNP is (T;T) as discussed by the 23andMe blog.
CDH1	Rs587783048	Also known as c.2398delC, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs876658261	CDH1 gene; aka c.1488_1494delCGAGGAC.
CDH1	Rs587781276	Also known as c.2064_2065delTG, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs267606712	Also known as c.1008G>T, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	Rs121964877	Also known as c.1792C>T, p.Arg598Ter and R598X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
CDH1	I5994973	rs121964877 CDH1, gastric cancer.
CDH1	I5004972	rs121964876 CDH1, gastric cancer.
CDKN2A	Rs587776716	There do appear to be modifiers in the genomes of some individuals that can reduce the cancer risk of this allele.Increased screening of individuals with the p16-Leiden for both moles and pancreatic cancer is likely to be beneficial.A detailed description of this allele and studies about it can be found in OMIM 600160.0003.
CDKN2A	Rs104894097	rs104894097, also known as c.71G>C, p.Arg24Pro and R24P, represents a rare mutation in the CDKN2A gene on chromosome 9.The rs104894097 (C) allele is considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere.
CEP152	Rs141600901	OMIM pathogenic variant.
CETP	Rs1800775	rs1799864 (G), rs3025058 (A) and rs662 were associated with increased risk, and rs1800775 (A) with reduced risk of recurrent venous thromboembolism.
CFAP43	Rs147356105	OMIM pathogenic variant.
CFAP44	Rs780798708	Aka NM_018338.3 (CFAP44) :c.2005_2006delAT or (p.Met669Valfs) OMIM pathogenic variant.
CFH	Rs380390	Linked to blindness in old age rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428 CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese.
CFH	Rs3766404	Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.
CFH	Rs11200638	rs10490924 and rs11200638 defined 2 significant haplotypes associated with increased risk of neovascular AMD.
CFTR	I4000300	Cystic Fibrosis rs113993959.
CFTR	I4000302	Cystic Fibrosis rs121909005.
CFTR	I4000307	Cystic Fibrosis rs80055610.
CFTR	I4000309	Cystic Fibrosis rs77010898.
CFTR	I4000319	Previously considered predictive of Cystic Fibrosis, 23andMe has removed it from their reports as unreliable.
CFTR	I4000323	Previously considered predictive of Cystic Fibrosis, 23andMe has removed it from their reports as unreliable.
CHAMP1	Rs863225078	Aka c.1945C>T (p.Gln649Ter) Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
CHAMP1	Rs797044962	Aka c.1192C>T (p.Arg398Ter) Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
CHEK2	Rs2236142	Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.
CHEK2	Rs555607708	In ClinVar, four companies all assert pathogenicity for this mutation, primarily for hereditary breast cancer.
CHEK2	Rs141568342	Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in.
CHEK2	Rs142763740	Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in Ancestry v2 data almost always shows the (A;A) genotype for this SNP in their users data, though, so thats clearly incorrect.
CHI3L1	Rs2275351	Schizophrenia 375 case and 812 control subjects rs10399805 p =.018 and rs2275351. p =.008.
CHRNA3	Rs12910984	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
CHRNA3	Rs8192482	Plos Risk Factors for Age-Dependent Nicotine Addiction A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.
CHRNA5	Rs8192482	Plos Risk Factors for Age-Dependent Nicotine Addiction A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.
CLCN1	Rs121912805	rs121912805, also known as c.871G>A or p.Glu291Lys, is a mutation in the CLCN1 gene on chromosome 7.Acting in either an autosomal dominant or recessive manner, the rs121912805 (A) allele is considered to cause myotonia congenita; see also OMIM 118425.0010Note that 23andMe refers to this SNP as i5003258.
CLCN1	I6056364	Myotonia congenita rs55960271.
CLCN1	I5003258	Myotonia congenita rs121912805.
CLCN1	I5003264	Myotonia congenita rs80356700.
CLCN1	I5003255	Myotonia congenita rs80356706.
CLCN1	I5003254	Myotonia congenita rs80356699.
CLCN1	I5003257	Myotonia congenita rs80356702.
CLDN14	Rs74315438	rs74315438, also known as c.301G>A, p.Gly101Arg and G101R, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLDN14	Rs786200885	rs786200885, also known as c.398delT and p.Met133Argfs, represents a variant in the CLDN14 gene on chromosome 21.Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
CLN5	Rs386833967	rs386833967, also known as c.1103_1106delAACA and p.Lys368Serfs, represents a very rare deletion mutation in the CLN5 gene on chromosome 13.The variant (deletion) allele is considered pathogenic for ceroid lipofuscinosis neuronal 5, a recessively inherited condition, according to ClinVar.
CLN5	Rs386833969	Aka c.1175_1176delAT (p.Tyr392Terfs).
CLRN1	I4990151	Usher syndrome Type III rs111033258.
CNGB3	Rs3735972	rs3735972, also known as E755G or Glu755Gly, is a SNP in the cyclic nucleotide gated-channel beta 3 CNGB3 gene.Although this SNP causes an amino acid substitution, it is not known to have medical consequences, unlike some other SNPs in this same gene which are known to lead to various forms of color-blindness.
CNTNAP2	Rs759178	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
CNTNAP2	Rs759178	Reported to be in very tight (r<sup>2</sup>>0.98) linkage with rs2710102, and thus potentially associated with autism.
CNTNAP2	Rs2710102	This effect is primarily seen in males, perhaps correlated with the 4-5x overrepresentation of males with autism compared with females.The confirmatory Stage 2 study was performed on 304 independent parent-child trios.
CNTNAP2	Rs2710102	rs2710102, a common SNP in the CNTNAP2 gene, was found to be significantly associated (p<0.028) with a delayed onset of speech, as measured by the age at which a child speaks their first words, in children with autism.
CNTNAP2	Rs201076428	OMIM pathogenic variant.
CNTNAP2	Rs1922892	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
CNTNAP2	Rs17236239	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ) / 23andMe blog/ g2b2mh discusses this snp nejm CNTNAP2 variants affect early language development in the general population.
CNTNAP2	Rs149032771	OMIM pathogenic variant.
CNTNAP2	Rs2538991	Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs ( rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117 ).
COL17A1	Rs121912771	Aka c.3908G>A (p.Arg1303Gln or R1303Q) This COL17A1 mutation is considered to cause late-onset, mild junctional epidermolysis bullosa (JEB), and it is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, based on a 2018 study.
COL1A1	Rs2075555	Associated with Accelerated Bone Mineral Density Loss after Hematopoietic Cell Transplantation.
COL4A3	Rs121912825	Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
COL7A1	Rs121912838	COL7A1 gene, c.6091G>A (p.Gly2031Ser) 23andMe name: i5004276.
COL7A1	Rs121912840	COL7A1 gene, c.4783G>C (p.Gly1595Arg) 23andMe name: i5004274 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
COL9A2	Rs137853213	Although initial reports associated the rs137853213 variant allele with intervertebral disc disease, subsequent studies have questioned this, and currently ClinVar indicates that this is considered a variant of uncertain significance.
COMT	Rs737865	May affect non-Hodgkin lymphoma, anxiety-related personality traitsAlso mentioned in these PMIDs.
CPS1	Rs1392559810	Aka c.3265C>T.
CPT1A	Rs80356791	Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
CPT1A	Rs80356790	Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
CSF2RB	Rs1801117	Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia.
CST3	Rs28939068	Cystatin C L68Q founder mutation for Icelandic hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults.
CST3	Rs1064039	rs1064039, also known as G73A, Ala25Thr or A25T, is a variant in the cystatin C CST3 gene.A relatively small study (167 patients) concluded that rs1064039 (A;A) genotypes had about a 3 fold increase in risk for exudative age-related macular degeneration (ARMD).A meta-analysis of 2,410 cases and 2,539 controls reported that although the rs1064039 (A) allele is associated with about a 1.5x increased odds ratio for developing Alzheimers disease in Caucasians, no increased risk was seen in Asians.
CTLA4	Rs231775	Polymorphisms are associated with several autoimmune diseases, especially autoimmune thyroiditis, as well as several other disorders.
CTLA4	Rs231775	(Abstract) rs231775 (CTLA4_+49_G/A P=0.0219) and rs733618 (CTLA4_-1722_T/C P=0.0096) susceptibility to Graves disease associated with the development of placental abruption and preeclampsia, with women having the G allele being at risk rs231775 was not associated with type-1 diabetes in a study of 207 Portuguese patients.In a meta-analysis of CTLA4 gene SNPs, rs231775 was most associated with vitiligo; however, the association seems to hold only in the subgroup of patients with other autoimmune diseases.
CTLA4	Rs733618	This gene encodes the CD152 antigen.A study of 165 Swedish myasthenia gravis patients concluded that the rs733618 (A;G) heterozygotes had an odds ratio of 1.87 (CI: 1.01-3.49, p=0.049) for the disease compared to healthy individuals, yet neither allele on its own showed increased risk.
CUBN	Rs138083522	CUBN gene, c.2594G>A (p.Ser865Asn) minor allele reported as pathogenic in ClinVar but condition not specified.
CYP17A1	Rs104894141	C.51G>A (p.Trp17Ter) 23andMe name: i5001490.
CYP17A1	Rs104894153	C.287G>A (p.Arg96Gln) 23andMe name: i5001478.
CYP17A1	Rs2486758	rs2486758 represents a variant in the CYP17A1 gene located in the intergenic region 5 to, or perhaps in, the promoter region.The minor allele, rs2486758 (C), has been associated with the following: Slightly increased risk for prostate cancer, including in a meta-analysis Poorer response to treatment of metastatic castration-resistant prostate cancer by AA/P (abiraterone acetate plus prednisone).
CYP19A1	Rs1062033	rs1062033 increases susceptibility to Osteoporosis, postmenopausal for carriers of the G allele Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study.
CYP19A1	Rs2414096	This study suggests that common variation at the aromatase gene (and not just rare loss-of-function mutations) is associated with androgen excess in girls and young women.Other: of CYP19A1.
CYP19A1	Rs749292	rs749292 (A) associated with ovarian cancer risk in a codominant model for all races combined AG versus AA genotype: odds ratio (OR), 1.48 and 95% confidence interval (CI), 1.07-2.04). GG versus AA: OR, 1.87 (CI, 1.24-2.82). Ptrend =0.002.
CYP1A2	Rs12720461	rs12720461 is a SNP in the CYP1A2 gene.The rs12720461 (T) allele defines the CYP1A2 1K_-729C>T variant.
CYP1A2	Rs55889066	rs55889066, also known as 3497G>A or C406Y, is a SNP in the CYP1A2 gene.The rs55889066 (A) allele defines the CYP1A2 5 variant.
CYP1A2	Rs72547515	rs72547515, also known as 2473G>A, 5347T>C or R377Q, is a SNP in the CYP1A2 gene.The rs72547515 (T) allele defines the CYP1A2 16 variant.
CYP1B1	Rs1056836	This report cites another study as indicating that rs1056836 (C;C) high-risk stage III and IV breast cancer patients receiving dose-intense paclitaxel in combination with doxorubicin and cyclophosphamide experience a longer progression-free survival compared with patients with (C;G) or (G;G) genotypes. rs1056836 increases susceptibility to lung cancer among those who never smoked 2.7x times for (C:G) heterozygotes and 3.1x times for (G;G) homozygotes, based on a study of 160 US patients.
CYP1B1	Rs9282671	In ExAC, it is clearly a rare variant, with an average minor allele frequency of 0.006, but showing the highest frequency in Finnish European populations (0.04).Overall, the significance of this variant is unclear.
CYP21A2	Rs9378251	Aka c.92C>T, p.Pro31Leu and P31Lassociated with non-classic 21-OH CAH; see / GeneReviews as well as OMIM.
CYP21A2	I5005436	Congenital adrenal hyperplasia rs7769409.
CYP21A2	Rs6471	Aka c.844G>T, p.Val282Leu and V282L; also known in older literature as Val281Leu or V281Lassociated with non-classic 21-OH CAH; see / GeneReviews as well as OMIM.
CYP21A2	I5005431	Congenital adrenal hyperplasia rs151344504.
CYP21A2	I5005432	Congenital adrenal hyperplasia rs72552757.
CYP2A6	Rs1801272	Minor form is a slow metaboliser according to pharmgkb.
CYP2A6	Rs28399433	CYP2B6 (c.516G-->T) and CYP2A6 ( 9B and/or 17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients.
CYP2B6	Rs2279345	CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer.
CYP2B6	Rs35303484	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
CYP2B6	Rs8192719	Correlated genotypes in friendship networks.
CYP2C19	Rs72558186	The rs72558186 (A) SNP represents a CYP2C19 allele known as CYP2C19 7; it reflects a splice donor mutation that leads to a poor metabolizer phenotype.This SNP is also known as CYP2C19_19294T>A, and in the Affymetrix DMET panel, as DMET3B10072.Note: absence of allele frequency data leaves this as a possible ambiguous flip.
CYP2C19	Rs41291556	This variant is associated with a dramatic (approximately 90% and 70%) reduction in the metabolism of S-mephenytoin and tolbutamide in vitro.Clopidogrel Efficacy.
CYP2C19	Rs3758581	Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.
CYP2C19	Rs28399504	It is also known as M1V or Met1Val.The risk allele is rs28399504 (G).As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).According to / a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009.
CYP2C19	Rs17884712	The rs17884712 (A) allele defines the CYP2C19 variant known as CYP2C19 9, which is associated with a slight decrease in the metabolism of S-mephenytoin (at least in vitro).
CYP2C8	Rs10509681	A 2013 NIH review titled PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 8 reiterated that some data suggest that the combined presence of minor risk alleles CYP2C8 3 ( rs10509681 and rs11572080 ) and CYP2C9 2 rs1799853 is a determinant of NSAID-induced gastrointestinal bleeding..
CYP2C9	Rs7900194	rs7900194, also known as 449G>A, 3627G>A or R150H, is a SNP in the CYP2C9 gene.The rs7900194 (A) allele defines the CYP2C9 8 variant, which has decreased activity.According to / a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009.
CYP2C9	Rs72558189	rs72558189, also known as 374G>A, 3552G>A or R125H, is a SNP in the CYP2C9 gene.The rs72558189 (A) allele defines the CYP2C9 14 variant, which may have decreased activity.
CYP2C9	Rs67807361	rs67807361, also known as 55C>A, 55C>A or L19I, is a SNP in the CYP2C9 gene.The rs67807361 (A) allele defines the CYP2C9 7 variant, which may have decreased activity.
CYP2C9	Rs28371686	rs28371686, also known as 1080C>G, 42619C>G or D360E, is a SNP in the CYP2C9 gene.The rs28371686 (G) allele defines the CYP2C9 5 variant, which appears to have decreased activity.
CYP2D6	Rs71754064	A variation in CYP2D6.
CYP2D6	Rs71710351	A variation in CYP2D6.
CYP2D6	Rs71667834	A variation in CYP2D6.
CYP2D6	Rs71328653	A variation in CYP2D6.
CYP2D6	Rs71328652	A variation in CYP2D6.
CYP2D6	Rs71328651	A variation in CYP2D6.
CYP2D6	Rs61737947	A variation in CYP2D6.
CYP2D6	Rs71328650	A variation in CYP2D6.
CYP2D6	Rs71184866	A variation in CYP2D6.
CYP2D6	Rs67780109	A variation in CYP2D6.
CYP2D6	Rs67497403	A variation in CYP2D6.
CYP2D6	Rs62625688	A variation in CYP2D6.
CYP2D6	Rs61745683	A variation in CYP2D6.
CYP2D6	Rs71800336	A variation in CYP2D6.
CYP2D6	Rs72233016	A variation in CYP2D6.
CYP2D6	Rs72549353	A variation in CYP2D6.
CYP2D6	Rs72549345	A variation in CYP2D6.
CYP2D6	Rs72552262	A variation in CYP2D6.
CYP2D6	Rs72549359	A variation in CYP2D6.
CYP2D6	Rs72549358	A variation in CYP2D6.
CYP2D6	Rs72549357	A variation in CYP2D6.
CYP2D6	Rs72549356	A variation in CYP2D6.
CYP2D6	Rs72549355	A variation in CYP2D6.
CYP2D6	Rs72454628	A variation in CYP2D6.
CYP2D6	Rs61737946	A variation in CYP2D6.
CYP2D6	Rs72549351	A variation in CYP2D6.
CYP2D6	Rs72549350	A variation in CYP2D6.
CYP2D6	Rs72549349	A variation in CYP2D6.
CYP2D6	Rs72549348	A variation in CYP2D6.
CYP2D6	Rs72549347	A variation in CYP2D6.
CYP2D6	Rs72549346	A variation in CYP2D6.
CYP2D6	Rs72549352	A variation in CYP2D6.
CYP2D6	Rs61736911	A variation in CYP2D6.
CYP2D6	Rs5845525	A variation in CYP2D6.
CYP2D6	Rs61736515	A variation in CYP2D6.
CYP2D6	Rs56011157	A variation in CYP2D6.
CYP2D6	Rs5030866	A variation in CYP2D6.
CYP2D6	Rs5030863	rs5030863, also known as 883G>C, is a SNP in the CYP2D6 gene.The rs5030863 (C) allele defines the CYP2D6 11 variant, which is inactive.
CYP2D6	Rs4996603	A variation in CYP2D6.
CYP2D6	Rs4996602	A variation in CYP2D6.
CYP2D6	Rs4996601	A variation in CYP2D6.
CYP2D6	Rs56358138	A variation in CYP2D6.
CYP2D6	Rs4987144	A variation in CYP2D6.
CYP2D6	Rs4078248	A variation in CYP2D6.
CYP2D6	Rs3915951	A variation in CYP2D6.
CYP2D6	Rs3831704	A variation in CYP2D6.
CYP2D6	Rs35970455	A variation in CYP2D6.
CYP2D6	Rs35888064	A variation in CYP2D6.
CYP2D6	Rs72552268	A variation in CYP2D6.
CYP2D6	Rs4078249	A variation in CYP2D6.
CYP2D6	Rs61736517	A variation in CYP2D6.
CYP2D6	Rs5758596	A variation in CYP2D6.
CYP2D6	Rs5758598	A variation in CYP2D6.
CYP2D6	Rs61736514	A variation in CYP2D6.
CYP2D6	Rs61736507	A variation in CYP2D6.
CYP2D6	Rs61731586	A variation in CYP2D6.
CYP2D6	Rs61731577	A variation in CYP2D6.
CYP2D6	Rs60979881	A variation in CYP2D6.
CYP2D6	Rs6002635	A variation in CYP2D6.
CYP2D6	Rs5758597	A variation in CYP2D6.
CYP2D6	Rs59360719	A variation in CYP2D6.
CYP2D6	Rs5845524	A variation in CYP2D6.
CYP2D6	Rs58440431	A variation in CYP2D6.
CYP2D6	Rs58405804	A variation in CYP2D6.
CYP2D6	Rs58331414	A variation in CYP2D6.
CYP2D6	Rs58188898	A variation in CYP2D6.
CYP2D6	Rs5758599	A variation in CYP2D6.
CYP2D6	Rs59099247	A variation in CYP2D6.
CYP2D6	Rs72552269	A variation in CYP2D6.
CYP2D6	Rs35534760	A variation in CYP2D6.
CYP2D6	Rs74478221	A variation in CYP2D6.
CYP2D6	Rs77845838	A variation in CYP2D6.
CYP2D6	Rs77867647	A variation in CYP2D6.
CYP2D6	Rs77913725	A variation in CYP2D6.
CYP2D6	Rs77952980	A variation in CYP2D6.
CYP2D6	Rs78047908	A variation in CYP2D6.
CYP2D6	Rs78139609	A variation in CYP2D6.
CYP2D6	Rs78209835	A variation in CYP2D6.
CYP2D6	Rs78340630	A variation in CYP2D6.
CYP2D6	Rs78459009	A variation in CYP2D6.
CYP2D6	Rs78482768	A variation in CYP2D6.
CYP2D6	Rs78762568	A variation in CYP2D6.
CYP2D6	Rs78854695	A variation in CYP2D6.
CYP2D6	Rs79102241	A variation in CYP2D6.
CYP2D6	Rs79125935	A variation in CYP2D6.
CYP2D6	Rs79292917	A variation in CYP2D6.
CYP2D6	Rs79331140	A variation in CYP2D6.
CYP2D6	Rs79347391	A variation in CYP2D6.
CYP2D6	Rs9623532	A variation in CYP2D6.
CYP2D6	Rs9611741	A variation in CYP2D6.
CYP2D6	Rs915947	A variation in CYP2D6.
CYP2D6	Rs80262685	A variation in CYP2D6.
CYP2D6	Rs80018788	A variation in CYP2D6.
CYP2D6	Rs79931073	A variation in CYP2D6.
CYP2D6	Rs77827855	A variation in CYP2D6.
CYP2D6	Rs79802111	A variation in CYP2D6.
CYP2D6	Rs79712708	A variation in CYP2D6.
CYP2D6	Rs79650744	A variation in CYP2D6.
CYP2D6	Rs79596243	A variation in CYP2D6.
CYP2D6	Rs79489631	A variation in CYP2D6.
CYP2D6	Rs79441454	A variation in CYP2D6.
CYP2D6	Rs79392742	A variation in CYP2D6.
CYP2D6	Rs79738337	A variation in CYP2D6.
CYP2D6	Rs77593160	A variation in CYP2D6.
CYP2D6	Rs77578877	A variation in CYP2D6.
CYP2D6	Rs77562994	A variation in CYP2D6.
CYP2D6	Rs75471486	A variation in CYP2D6.
CYP2D6	Rs75467367	A variation in CYP2D6.
CYP2D6	Rs75386357	A variation in CYP2D6.
CYP2D6	Rs75324300	A variation in CYP2D6.
CYP2D6	Rs75276289	A variation in CYP2D6.
CYP2D6	Rs75203276	A variation in CYP2D6.
CYP2D6	Rs75614915	A variation in CYP2D6.
CYP2D6	Rs75112600	A variation in CYP2D6.
CYP2D6	Rs74966855	A variation in CYP2D6.
CYP2D6	Rs74962936	A variation in CYP2D6.
CYP2D6	Rs74951492	A variation in CYP2D6.
CYP2D6	Rs74802369	A variation in CYP2D6.
CYP2D6	Rs74644586	A variation in CYP2D6.
CYP2D6	Rs74516776	A variation in CYP2D6.
CYP2D6	Rs75085559	A variation in CYP2D6.
CYP2D6	Rs7285233	A variation in CYP2D6.
CYP2D6	Rs75824064	A variation in CYP2D6.
CYP2D6	Rs76060075	A variation in CYP2D6.
CYP2D6	Rs77449786	A variation in CYP2D6.
CYP2D6	Rs77312092	A variation in CYP2D6.
CYP2D6	Rs77185887	A variation in CYP2D6.
CYP2D6	Rs769259	A variation in CYP2D6.
CYP2D6	Rs769258	A variation in CYP2D6.
CYP2D6	Rs769257	A variation in CYP2D6.
CYP2D6	Rs76015180	A variation in CYP2D6.
CYP2D6	Rs76802407	A variation in CYP2D6.
CYP2D6	Rs76327133	A variation in CYP2D6.
CYP2D6	Rs76326664	A variation in CYP2D6.
CYP2D6	Rs76312385	A variation in CYP2D6.
CYP2D6	Rs76210340	A variation in CYP2D6.
CYP2D6	Rs76187628	A variation in CYP2D6.
CYP2D6	Rs76088846	A variation in CYP2D6.
CYP2D6	Rs76527171	A variation in CYP2D6.
CYP2D6	Rs35481113	A variation in CYP2D6.
CYP2D6	Rs1080990	A variation in CYP2D6.
CYP2D6	Rs35046171	A variation in CYP2D6.
CYP2D6	I4001472	A variation in CYP2D6.
CYP2D6	I4001474	A variation in CYP2D6.
CYP2D6	I4001476	A variation in CYP2D6.
CYP2D6	I4001480	A variation in CYP2D6.
CYP2D6	I4001488	A variation in CYP2D6.
CYP2D6	I4001489	A variation in CYP2D6.
CYP2D6	I4001490	A variation in CYP2D6.
CYP2D6	I4001494	A variation in CYP2D6.
CYP2D6	I4001497	A variation in CYP2D6.
CYP2D6	I4001499	A variation in CYP2D6.
CYP2D6	Rs1058164	Involved in a number of decreased and non-functioning CYP2D6 variants.
CYP2D6	Rs1058170	A variation in CYP2D6.
CYP2D6	Rs1075944	A variation in CYP2D6.
CYP2D6	Rs1080984	A variation in CYP2D6.
CYP2D6	Rs1080986	A variation in CYP2D6.
CYP2D6	Rs1080988	A variation in CYP2D6.
CYP2D6	Rs1080989	A variation in CYP2D6.
CYP2D6	Rs1135830	A variation in CYP2D6.
CYP2D6	Rs1135829	A variation in CYP2D6.
CYP2D6	Rs1135828	A variation in CYP2D6.
CYP2D6	Rs1135827	A variation in CYP2D6.
CYP2D6	Rs1135825	A variation in CYP2D6.
CYP2D6	Rs1135822	A variation in CYP2D6.
CYP2D6	I4001471	A variation in CYP2D6.
CYP2D6	Rs1135821	A variation in CYP2D6.
CYP2D6	Rs1080999	A variation in CYP2D6.
CYP2D6	Rs1080997	A variation in CYP2D6.
CYP2D6	Rs1080996	A variation in CYP2D6.
CYP2D6	Rs1080995	A variation in CYP2D6.
CYP2D6	Rs1080993	A variation in CYP2D6.
CYP2D6	Rs1080992	A variation in CYP2D6.
CYP2D6	Rs1081000	A variation in CYP2D6.
CYP2D6	Rs1135831	A variation in CYP2D6.
CYP2D6	I4001469	A variation in CYP2D6.
CYP2D6	I4001466	A variation in CYP2D6.
CYP2D6	Rs35183748	A variation in CYP2D6.
CYP2D6	I3003610	A variation in CYP2D6.
CYP2D6	I4000452	A variation in CYP2D6.
CYP2D6	I4000487	A variation in CYP2D6.
CYP2D6	I4001387	A variation in CYP2D6.
CYP2D6	I4001388	A variation in CYP2D6.
CYP2D6	I4001391	A variation in CYP2D6.
CYP2D6	I4001392	A variation in CYP2D6.
CYP2D6	I4001400	A variation in CYP2D6.
CYP2D6	I4001403	A variation in CYP2D6.
CYP2D6	I4001404	A variation in CYP2D6.
CYP2D6	I4001409	A variation in CYP2D6.
CYP2D6	I4001411	A variation in CYP2D6.
CYP2D6	I4001413	A variation in CYP2D6.
CYP2D6	I4001414	A variation in CYP2D6.
CYP2D6	I4001416	A variation in CYP2D6.
CYP2D6	I4001419	A variation in CYP2D6.
CYP2D6	I4001464	A variation in CYP2D6.
CYP2D6	I4001459	A variation in CYP2D6.
CYP2D6	I4001456	Also known as 1858C>T, the (A) allele is a marker for CYP2D6 4F non-functioning variant.
CYP2D6	I4001454	A variation in CYP2D6.
CYP2D6	I4001452	A variation in CYP2D6.
CYP2D6	I4001451	A variation in CYP2D6.
CYP2D6	I4001468	A variation in CYP2D6.
CYP2D6	I4001444	A variation in CYP2D6.
CYP2D6	I4001438	A variation in CYP2D6.
CYP2D6	I4001436	A variation in CYP2D6.
CYP2D6	I4001435	A variation in CYP2D6.
CYP2D6	I4001434	A variation in CYP2D6.
CYP2D6	I4001421	A variation in CYP2D6.
CYP2D6	I4001420	A variation in CYP2D6.
CYP2D6	I4001442	A variation in CYP2D6.
CYP2D6	Rs1135832	A variation in CYP2D6.
CYP2D6	I4001423	A variation in CYP2D6.
CYP2D6	Rs1135835	A variation in CYP2D6.
CYP2D6	Rs28371724	A variation in CYP2D6.
CYP2D6	Rs28371726	A variation in CYP2D6.
CYP2D6	Rs28371728	A variation in CYP2D6.
CYP2D6	Rs28371729	A variation in CYP2D6.
CYP2D6	Rs1135833	A variation in CYP2D6.
CYP2D6	Rs28371732	A variation in CYP2D6.
CYP2D6	Rs28371735	A variation in CYP2D6.
CYP2D6	Rs28371736	A variation in CYP2D6.
CYP2D6	Rs28371737	A variation in CYP2D6.
CYP2D6	Rs28371738	A variation in CYP2D6.
CYP2D6	Rs28439001	A variation in CYP2D6.
CYP2D6	Rs28439297	A variation in CYP2D6.
CYP2D6	Rs28448769	A variation in CYP2D6.
CYP2D6	Rs28578778	A variation in CYP2D6.
CYP2D6	Rs28588594	A variation in CYP2D6.
CYP2D6	Rs28624811	A variation in CYP2D6.
CYP2D6	Rs28633410	A variation in CYP2D6.
CYP2D6	Rs35028622	A variation in CYP2D6.
CYP2D6	Rs35023634	A variation in CYP2D6.
CYP2D6	Rs34898711	A variation in CYP2D6.
CYP2D6	Rs34894147	A variation in CYP2D6.
CYP2D6	Rs34291018	A variation in CYP2D6.
CYP2D6	Rs3045547	A variation in CYP2D6.
CYP2D6	Rs28371723	A variation in CYP2D6.
CYP2D6	Rs3021084	A variation in CYP2D6.
CYP2D6	Rs29001678	A variation in CYP2D6.
CYP2D6	Rs29001518	A variation in CYP2D6.
CYP2D6	Rs2899353	A variation in CYP2D6.
CYP2D6	Rs28735595	A variation in CYP2D6.
CYP2D6	Rs28695233	A variation in CYP2D6.
CYP2D6	Rs28680494	A variation in CYP2D6.
CYP2D6	Rs2982055	A variation in CYP2D6.
CYP2D6	Rs28371722	A variation in CYP2D6.
CYP2D6	Rs28371730	A variation in CYP2D6.
CYP2D6	Rs28371719	A variation in CYP2D6.
CYP2D6	Rs2267447	A variation in CYP2D6.
CYP2D6	Rs2004511	A variation in CYP2D6.
CYP2D6	Rs1985842	A variation in CYP2D6.
CYP2D6	Rs1807314	A variation in CYP2D6.
CYP2D6	Rs28371721	A variation in CYP2D6.
CYP2D6	Rs1800716	A variation in CYP2D6.
CYP2D6	Rs2267448	A variation in CYP2D6.
CYP2D6	Rs17002853	A variation in CYP2D6.
CYP2D6	Rs16947	However, this variant has been seen present in higher copy numbers, and in these cases, can result in the ultrafast metabolizer phenotype.
CYP2D6	Rs13056401	A variation in CYP2D6.
CYP2D6	Rs12169962	A variation in CYP2D6.
CYP2D6	Rs1135840	Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
CYP2D6	Rs1135837	A variation in CYP2D6.
CYP2D6	Rs1135836	A variation in CYP2D6.
CYP2D6	Rs17002852	A variation in CYP2D6.
CYP2D6	Rs35029149	A variation in CYP2D6.
CYP2D6	Rs1807313	A variation in CYP2D6.
CYP2D6	Rs28371695	A variation in CYP2D6.
CYP2D6	Rs28371694	A variation in CYP2D6.
CYP2D6	Rs28371717	A variation in CYP2D6.
CYP2D6	Rs28371715	A variation in CYP2D6.
CYP2D6	Rs28371713	A variation in CYP2D6.
CYP2D6	Rs28371712	A variation in CYP2D6.
CYP2D6	Rs28371710	A variation in CYP2D6.
CYP2D6	Rs28371705	A variation in CYP2D6.
CYP2D6	Rs28371718	A variation in CYP2D6.
CYP2D6	Rs28371703	A variation in CYP2D6.
CYP2D6	Rs28371702	A variation in CYP2D6.
CYP2D6	Rs28371701	A variation in CYP2D6.
CYP2D6	Rs28371700	A variation in CYP2D6.
CYP2D6	Rs28371699	A variation in CYP2D6.
CYP2D6	Rs28371696	A variation in CYP2D6.
CYP2D6	Rs28371704	A variation in CYP2D6.
CYP2R1	Rs117913124	Individuals carrying a rs117913124 (A) allele also had somewhat higher odds of developing multiple sclerosis (OR 1.4, CI: 1.19-1.64, p = 2.63x10e-5).
CYP2R1	Rs2060793	Genome-wide association study of circulating vitamin D levels.
CYP2R1	Rs2060793	This SNP, along with rs2282679, rs3829251, and rs6599638 accounted for 2.8% of the variance in circulating vitamin D levels.
CYP3A4	Rs2242480	rs2242480 is a SNP in the CYP3A4 gene.The rs2242480 (T) allele defines the CYP3A4 _20239G>A variant.
CYP3A4	Rs28371759	rs28371759, also known as 878T>C, 20070T>C or L293P, is a SNP in the CYP3A4 gene.The rs28371759 (C) allele defines the CYP3A4 18 variant.
CYP3A4	Rs4986907	rs4986907, also known as 485G>A, 14269G>A or R162Q, is a SNP in the CYP3A4 gene.The rs4986907 (A) allele defines the CYP3A4 15A variant.
CYP3A4	Rs4986913	rs4986913, also known as 1399C>T, 23237C>T or P467S, is a SNP in the CYP3A4 gene.The rs4986913 (T) allele defines the CYP3A4 19 variant.
CYP3A4	Rs4987161	rs4987161, also known as 566T>C, 15615T>C or F189S, is a SNP in the CYP3A4 gene.The rs4987161 (C) allele defines the CYP3A4 17 variant.
CYP3A5	Rs776746	Expression of CYP3A5 and P-glycoprotein in renal allografts with histological signs of calcineurin inhibitor nephrotoxicity.
CYP3A5	Rs45593941	NOTE: this SNP has been merged into rs28365085.
CYP3A5	Rs10264272	This does not correspond with dbSNP, which indicates that is a nucleotide substition (624G-A) which only results in a silent substitution of AAG (Lysine) to AAA (Lysine).
CYP4V2	Rs13146272	New gene variants associated with venous thrombosis: a replication study in White and Black Americans.
DBH	Rs4531	Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.
DBH	Rs3025382	Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.
DBH	Rs77905	Genetic variation in the dopamine pathway and smoking cessation.
DBH	Rs2007153	The G allele was associated with an increased risk of schizophrenia.
DBH	Rs1611115	This study concludes that rs1611115 (T;T) homozygotes appear to be at increased risk for personality traits related to impulsiveness, aggression, and adult ADHD.
DBH	Rs2283123	Associated with schizophrenia in a study of Croatians.
DCDC2	Rs2027584	Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
DCDC2	Rs807701	The risk allele in the Caucasian populations studied is (C).One study reports that the odds ratio for rs807701 genotypes increases if calculated from subsets of more severely dyslexic individuals as compared to more heterogenous, larger groups of dyslexic individuals.
DCDC2	Rs9467076	Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
DDC	Rs6592961	A allele associated with ADHD in adults and children.
DDX3Y	Rs9341301	The rs9341301 (C;C) mutation is a reliable indicator of Haplogroup I (Y-DNA) and is also referred to as M258+.
DHDDS	Rs147394623	rs147394623, also known as c.124A>G, p.Lys42Glu and K42E, represents a rare mutation in the DHDDS gene on chromosome 1.Inherited in an autosomal recessive manner, the rs147394623 (G) allele is considered pathogenic for a form of retinitis pigmentosa (type 59 as labeled in OMIM).This mutation is one of two considered to be a prevalent retinitis pigmentosa founder mutation among Ashkenazi Jews.
DHFR	Rs70991108	If a carrier of a rs70991108 deletion allele was also a carrier of a rs1801133 (T) allele, the risk for hepatic toxicity was even higher (odds ratio 6.8, p=0.018).Studies have also looked for connections between this SNP and the risk of having a baby born with spina bifida, but the results are inconsistent between studies: PMID 14735580, PMID 15755837: suggested the del/del genotype increased risk for spina bifida and pre-term delivery : suggested that the del/del genotype actually reduced risk for spina bifida : found no connection whatsoever between the del/del genotype and spina bifida risk.
DHFR	Rs1677693	No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
DISC1	Rs821597	Effect of DISC1 on the P300 Waveform in Psychosis.
DISC1	Rs821616	Women with two rs821616 (T) SNPs seem to experience more rapid cognitive decline as they age compared to men.
DLD	I5003700	rs121964990 Dihydrolipoamide Dehydrogenase Deficiency/.
DNAH1	Rs140883175	OMIM pathogenic variant.
DNAH1	Rs779490893	Aka NM_015512.4 (DNAH1) :c.11726_11727delCT or (p.Pro3909Argfs) OMIM pathogenic variant.
DNAI1	Rs200669099	Aka c.1644G>A (p.Trp548Ter).
DOCK7	Rs10889353	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
DPP6	Rs10260404	rs10260404, a SNP in the region of the DPP6 gene on chromosome 7, has been associated with the sporadic form of ALS (Lou Gehrigs disease) in a study of 1000+ European patients.
DPYD	Rs1801160	The absolute frequencies of the various adverse effects varied; for example, neutropenia occurred in about 1 in 10 patients (so about 1 in 5 rs1801160 (A) carriers).
DPYD	Rs1801265	Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.
DPYD	Rs67376798	rs67376798, also known as c.2846 A>T, is a SNP in the DPYD gene on chromosome 1.Note that the A>T term in the name used in the literature for this SNP can be confusing, since the gene is in reverse orientation to the chromosome strand on the reference genome.
DRD3	Rs167771	G allele associated with increased extra-pyramidal symptom risk as a result of risperidone treatment in a study of 321 psychiatric inpatients (81 presenting with EPS and 189 without).
DRD3	Rs6280	Preliminary evidence for an association between a dopamine D3 receptor gene variant and obsessive-compulsive personality disorder in patients with major depression.
DSPP	Rs36094464	Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.
DTNBP1	Rs2619539	Intelligence related.
DYSF	Rs11903223	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
EDN1	Rs2071942	The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population.
EIF2AK4	Rs587777207	Also known as c.3766C>T (p.Arg1256Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
EIF2B5	Rs28939717	Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
ELANE	Rs137854448	rs137854448, also known as c.416C>T, p.Pro139Leu and P139L, represents a rare variant in the ELANE gene on chromosome 19.The rs137854448 (T) variant is reported in ClinVar by a single submitter to be a dominant mutation leading to severe congenital neutropenia, type 1.
ELANE	Rs137854448	However, we (SNPedia) are now been informed by several Promethease users with 23andMe-based data indicating they carry this mutation, yet, who have no any signs or history of any form of neutropenia.
ELANE	Rs137854450	C.377C>T (p.Ser126Leu).
ELN	Rs3757587	Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
ELN	Rs7787362	Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.
ELP4	Rs11031434	Associated with rolandic epilepsy, as part of a relatively tightly linked cluster of 3 SNPs ( rs964112, rs11031434, and rs986527.
ELP4	Rs11031434	Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
ELP4	Rs986527	Associated with rolandic epilepsy, as part of a relatively tightly linked cluster of 3 SNPs ( rs964112, rs11031434, and rs986527.
ENG	Rs368423516	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ENG	Rs756994701	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ENPP1	Rs1044498	Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.
ENPP1	Rs1044498	Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.
ENPP1	Rs1044498	The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
ENPP1	Rs753851892	Aka NM_006208.2 (ENPP1) :c.795+1G>AOMIM pathogenic variant.
ENPP1	Rs943003	rs1800949 and rs943003 showed suggestive evidence for association with adult-onset morbid obesity in Finns.
ENPP1	Rs1800949	rs1800949 and rs943003 showed suggestive evidence for association with adult-onset morbid obesity in Finns.
ENPP1	Rs1044498	Genetic risk factors for type 2 diabetes with pharmacologic intervention in African-American patients with schizophrenia or schizoaffective disorder.
ENPP1	Rs1044498	Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.
ENPP1	Rs1044498	Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.
ENPP1	Rs1044498	Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.
ENPP1	Rs1044498	The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
ENPP1	Rs1044498	Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
ENPP1	Rs1044498	ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.
ENPP1	Rs1044498	Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.
EPAS1	Rs141965374	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
EPAS1	Rs7579899	23andMe reports that rs7579899 (A,A) homozygotes are 1.15 times more likely, and (G,G) homozygotes 1.15 times less likely, than (A,G) heterozygotes to develop renal cell carcinoma (a form of kidney cancer).
ERCC2	Rs50872	DNA polymorphism and risk of esophageal squamous cell carcinoma in a population of North Xinjiang, China.
ESCO2	Rs144288263	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
ESR1	Rs1709183	rs1709183 associated with EDV endothelium-dependent vasodilation in resistance, but not conduit arteries.
ESR1	Rs2228480	Haplotype less common in schizophrenia rs2273206 (T), rs2273207 (G), rs2228480 (G).
ESR1	Rs2273206	Haplotype less common in schizophrenia rs2273206 (T), rs2273207 (G), rs2228480 (G).
ESR1	Rs2273207	Haplotype less common in schizophrenia rs2273206 (T), rs2273207 (G), rs2228480 (G).
F11	Rs375422404	Aka c.1489C>T (p.Arg497Ter) 23andMe name: i6009851.
F11	I4000397	Factor XI Deficiency rs373297713.
F11	Rs121965064	rs121965064, also known as F283L or Phe283Leu, is a SNP in the coagulation factor XI F11 gene.This SNP is reported as one of the three most common factor XI-deficiency causing mutations in Ashkenazi Jews; it is reported as i4000399 by 23andMe.
F12	Rs1801020	A meta-analysis of publications through July 2009, totaling 4,386 cases (vs 40,089 controls) concluded that apart from a very weak association with myocardial infarction for the rs1801020 (T;T) + (C;T) compared with (C;C) genotype, (odds ratio 1.13, CI: 1.00 - 1.27), the evidence for an association between F12 -4C>T and venous thromboembolism and myocardial infarction was weak.
F12	Rs187018744	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
F12	Rs41309132	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
F5	Rs6022	Compared with non-smoking mothers carrying rs6019 (C) associated with significantly increased risk of PTD (OR (95% CI) : 2.1 (1.2-3.6) for GC; 5.7 (2.1-15.0) for CC; p-interaction = 0.02.
FAAH	Rs873978	Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa.
FAH	I5012862	Tyrosinemia Type I rs80338899.
FAH	I5012865	Tyrosinemia Type I rs80338901.
FANCC	Rs121917783	Aka c.553C>T (p.Arg185Ter or R185X).
FBXL3	Rs386833967	rs386833967, also known as c.1103_1106delAACA and p.Lys368Serfs, represents a very rare deletion mutation in the CLN5 gene on chromosome 13.The variant (deletion) allele is considered pathogenic for ceroid lipofuscinosis neuronal 5, a recessively inherited condition, according to ClinVar.
FBXL3	Rs386833969	Aka c.1175_1176delAT (p.Tyr392Terfs).
FCGR2A	Rs1801274	Malaria Complications.
FCGR2A	Rs1801274	Hemophilia A In a case-control study of 85 individuals a more than 3-fold increased risk of inhibitor development was found compared to patients with the RR genotype Malaria Based on a study of more than 1,800 individuals in India, rs1801274 (T;T) homozgyotes were significantly associated with protection from disease manifestation, with stronger association observed in the malaria non-endemic region.
FCGR2B	Rs3219018	Features associated with, and the impact of, hemolytic anemia in patients with systemic lupus erythematosus: LX, results from a multiethnic cohort.
FERMT1	Rs869312722	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FGF23	Rs104894344	Aka c.386C>T (p.Ser129Phe or S129F).
FGF23	Rs193922702	Fibroblast growth factor 23 reduces expression of type IIa Na+/Pi co-transporter by signaling through a receptor functionally distinct from the known FGFRs in opossum kidney cells.
FGG	Rs2066865	Clotting factor gene polymorphisms and colorectal cancer risk.
FKBP5	Rs1360780	rs9296158 rs3800373 rs1360780 rs9470080 linked with the severity of child abuse to predict level of adult PTSD symptoms after correcting for multiple testing.
FKBP5	Rs7757037	rs7757037, a SNP in the FKBP5 gene, is associated with increased risk for bipolar disorder in a study of 500+ Caucasian patients.
FKRP	Rs200990647	Minor allele should be reclassified as benign according to.
FLG	Rs144419479	This variant is predicted to cause loss of normal protein function through protein truncation.
FLG	Rs41370446	The c.3254_3257delCAGT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
FLNB	Rs9834312	rs9834312 is a SNP in the filamin B, beta (actin binding protein 278) FLNB gene.Based on a study of 1,000+ Caucasians and 2,000+ Chinese, rs9834312 was associated with height in both Caucasian populations (p=0.008) and Chinese populations (p=0.017) / 23andMe blog rs1867138 (T;T) or rs1867137 (G;G) were approximately one inch taller than rs1867138 (C;C) rs9834312 (G;G) or rs939882 (G;G) increased height.
FMO3	Rs72549325	This is presumed to be associated with trimethylaminuria.
FMO3	Rs72549330	It has been reported in a single patient with trimethylaminuria.
FMO3	Rs72549332	rs72549332, also known as Met434Ile, is a SNP in the FMO3 gene.
FOXP2	Rs121908377	The associated disorder is known as Speech-language disorder-1 or SPCH1.
FOXP2	Rs121908378	The associated disorder is known as Speech-language disorder-1 or SPCH1.
FTL	Rs398124638	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTL	Rs398124637	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTL	Rs398124636	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTL	Rs398124633	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTL	Rs398124634	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTL	Rs398124635	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FTO	Rs1861868	Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children.
FTO	Rs8043757	Body mass index, BMI) is not rs8043757, although this SNP is one of co-inherited SNPs in the FTO gene region.
FTO	Rs8047395	Analysis of FTO gene variants with obesity and glucose homeostasis measures in the multiethnic Insulin Resistance Atherosclerosis Study cohort.
FTO	Rs9923233	The SNP showing the strongest association with body weight (i.e.
FTO	Rs9937053	For more information, refer to the FTO gene or the most studied of FTO SNPs, rs9930506.
FTO	Rs9939609	Each copy of the risk-allele A at rs9939609 was significantly associated with 0.45 kg/m (2) increase in BMI (95% confidence interval (CI) : 0.16-0.74; P = 0.004) and 0.97 cm increase in waist circumference (95% CI: 0.21-0.65; P = 0.0002).
FUS	Rs559575844	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FUS	Rs780606789	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FUS	Rs376510148	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
FUT1	Rs150074056	Aka c.349C>T (p.His117Tyr) FUT1 Para-Bombay phenotype; according to OMIM, this mutation is responsible for the weak H-deficient Reunion variant (when homozygous).Note: Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, where they are cross-match incompatible with all donors except other H-deficient individuals.23andMe name: i709466.
FUT1	Rs838133	When sweet intake was divided into “candy” and “cake,” individuals carrying the T-allele had higher candy intake (OR 1.19, CI: 1.07–1.32, p = 0.0007), whereas intake of cake was the same regardless of rs838133 genotype.
FUT2	Rs492602	This allele is in strong linkage disequilibrium with the FUT2 nonsecretor variant encoding W143X, suggesting a plausible mechanism for altered B (12) absorption and plasma levels.
FUT2	Rs601338	FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection.Norovirus Resistance.
FXN	Rs146948377	rs146948377, also known as c.482_+_3 delA or, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs149335881	2), is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs149229839	rs149229839, also known as c.465 G>A or p.W155X, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs145045861	rs145045861, also known as c.317 delT or p.L106X, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs149724959	rs149724959, also known as c.2 delT or p.M1S, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs139616452	rs139616452, also known as c.544 C>T or p.L182F, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs138471431	rs138471431, also known as c.463 T>C or p.W155R, is a mutation in the FXN gene on chromosome 9.The minor allele of this SNP is associated with Friedreichs ataxia when inherited in two copies or as a compound heterozygote.
FXN	Rs104894105	It has 2 known minor alleles c.317 T>C or p.L106S, c.317 T>G or p.L106X.
G6PC	Rs80356488	Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
G6PC	Rs80356488	Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
G6PD	Rs5030868	It is suspected to be protective against malaria and to have been under positive selection in the past.See also OMIM 305900.0006.
G6PD	Rs398123546	Aka c.1360C>T, c.1450C>T (p.Arg484Cys or R484C).
G6PD	Rs137852346	23andMe name: i6010663.
G6PD	Rs137852340	Its biochemical characterization was reviewed by Chiu et al.
G6PD	Rs137852321	23andMe name: i5008429.
G6PD	Rs137852323	23andMe name: i6010641.
G6PD	Rs137852320	23andMe name: i5008428.
G6PD	Rs137852336	23andMe name (for the G>A variant) : i5008448.
GAA	Rs121907936	Aka c.953T>C (p.Met318Thr or M318T), as well as c.953T>A (p.Met318Lys or M318K). the former is annotated in OMIM as pathogenic but as a variant of uncertain significance in ClinVar; the latter is annotated as of uncertain significance in ClinVar.
GABRA2	Rs279858	Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858 (A) homozygotes.
GALC	Rs387906953	Aka c.1796T>G, p.Ile599SerIdentified in ClinVar as likely pathogenic/pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote).
GALT	Rs111033690	rs111033690, also known as c.404C>T, p.Ser135Leu and S135L, represents a variant in the GALT gene on chromosome 9.The rs111033690 (T) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns.
GATA2	Rs3803	GATA2 is associated with familial early-onset coronary artery disease.
GATA2	Rs2713604	This paper implicates this snp as playing a role in heart disease.
GATA3	Rs4143094	For this secondary result, the author proposed the following pathway: processed meat triggers pro-tumorigenic inflammatory or immunological response, whose recovery depends upon the expression of GATA3 gene.
GATA4	Rs769262495	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
GATA4	Rs372004083	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
GBA	Rs1064651	When one of the mutations is the D409H mutation, the clinical description may be Gaucher disease type 3C, involving valvular heart disease.
GCDH	Rs1273164833	Aka c.301G>A.
GCH1	Rs41298442	Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
GCH1	Rs8007267	T allele associated with higher pain tolerance.GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function.
GCH1	Rs3783641	GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence.
GCH1	Rs3783641	A allele associated with higher tolerance to pain.Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain.
GCK	Rs193922264	Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
GCK	Rs1799884	The glucokinase gene promoter polymorphism -30G>A ( rs1799884 ) is associated with fasting glucose in healthy pregnant women but not with gestational diabetes.
GCK	Rs144723656	A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
GCK	Rs104894006	Aka c.556C>T (p.Arg186Ter or R186X) This mutation is a very rare variant strongly associated with late-onset noninsulin-dependent diabetes (odds ratio ~68, CI: 14-328, p = 2x10e-8). see ClinVar and OMIM links.
GHR	Rs121909363	Aka c.703C>T (p.Arg235Ter or R235X).
GHRL	Rs35682	rs35682 and rs35683 associated with obesity/BMI in the New York European Americansbut not a Yupik Eskimo populations.
GJB2	Rs111033204	Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.
GJB2	Rs72474224	rs72474224 represents two variants at a position in the GJB2 gene on chromosome 13; they are c.109G>A (p.Val37Ile), for which the minor allele is rs72474224 (T) in dbSNP/SNPedia orientation, and c.109G>T (p.Val37Phe), for which the minor allele is rs72474224 (A) in dbSNP/SNPedia orientation.Both minor allele are considered pathogenic in ClinVar and in the Deafness Variation Database (DVD) for recessively inherited forms of deafness.
GJB2	I6011485	See rs104894407.
GJB2	Rs80338947	GJB2 mutations and degree of hearing loss: a multicenter study.
GJB2	Rs730880338	C.269dupT (p.Val91Serfs) ClinVar pathogenic/likely pathogenic for deafness, DFNB1A.
GJB2	I6011481	rs786204597 recessive GJB2 gene variant associated with deafness.
GJB2	I6011314	rs80338941 recessive GJB2 gene variant associated with deafness.
GJB2	I5001998	rs104894398 recessive GJB2 gene variant associated with deafness.
GJB2	I6011325	rs781534323 recessive GJB2 gene variant associated with deafness.
GJB2	I6011412	rs111033293 recessive GJB2 gene variant associated with deafness.
GJC2	Rs587776888	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
GLA	Rs28935485	Aka c.835C>G (p.Gln279Glu or Q279E) note X-linkage.
GLA	Rs104894845	However, this variant occurs at an appreciable frequency in population databases, asymptomatic adult relatives have been identified, and most patient do not have evidence of storage on tissue biopsy.
GLA	Rs104894827	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
GLB1	Rs72555362	Human beta-galactosidase gene mutations in morquio B disease.
GLB1	Rs72555363	Human beta-galactosidase gene mutations in morquio B disease.
GNB3	Rs5443	rs5443 (C;T) genotypes are more prevalent in gastroesophageal reflux disease (GERD) patients relative to healthy controls (odds ratio 1.43, CI: 1.04&#8211;1.98).
GNE	Rs28937594	rs28937594, also known as c.2228T>C, p.Met743Thr, M743T and most commonly in the literature M712T, is a mutation in the GNE gene on chromosome 9.The very rare rs28937594 (C) allele is the most common mutation leading to autosomal recessive inclusion body myopathy 2 (IBM2 or HIBM) in Middle Eastern populations.See also OMIM 603824.0005.
GNPTAB	Rs137853822	Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect.
GNPTG	Rs137853827	rs137853827, also known as c.688C>G, Leu230Val or L230V, is a variant in the GNPTG gene on chromosome 16.The minor (G) allele of rs137853827 was reported as a mutation in the GNPTG gene associated with stuttering in a 2010 study.
GNPTG	Rs193302853	C.609+28_610-16del (del34) Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
GPHN	Rs761543313	Aka NM_004569.4 (PIGH) :c.1A>T or (p.Met1Leu) OMIM pathogenic variant.
GPX1	Rs1800668	Mistakenly mentioned as rs18006688 in Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.
GPX4	Rs757229	The prognosis of varies considerably among individuals based on rs713041 and rs757229 in GPX4 were associated with all-cause mortality in breast cancer.
GPX4	Rs713041	Two SNPs associated with the antioxidant GPX4 gene, rs713041 and rs757229, are both somewhat correlated (r<sup>2</sup>=0.61) and are associated with all-cause mortality in breast cancer.The rs713041 (T) allele is associated with an increased risk of death following breast cancer diagnosis, with a hazard ratio of 1.27 per rare allele (CI: 1.13-11.43, p=0.0041).
GRHPR	I5012629	Primary hyperoxaluria type 2Note: 23andMe may have discontinued reporting results for this SNP, as several Promethease users have reported it is not included in their data. rs180177309.
GRIN1	Rs200777850	OMIM pathogenic variant.
GRIN2B	Rs1806201	Association between NMDA receptor subunit 2b gene polymorphism and Alzheimers disease in Chinese Han population in Shanghai.
GRN	Rs794729670	rs794729670, also known as c.882T>G and p.Tyr294Ter, represents a very rare mutation in the GRN gene on chromosome 17.The rs794729670 (G) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
GRN	Rs5848	According to First symptoms--frontotemporal dementia versus Alzheimers disease as well as other sources frontotemporal dementia is often misdiagnosed as Alzheimers disease so it is possible some studies have misdiagnosed cases.
GRN	Rs5848	Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.
GRN	Rs5848	rs5848 (T;T) found a 3.2-fold increased risk vs C-allele carriers (95% CI: 1.50-6.73, p=0.003) for ubiquitin- and TAR DNA-binding protein 43 (TDP-43) -positive frontotemporal dementia (FTLD-U also knows as FTLD-TDP43), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients.
GRN	Rs5848	Association between rs5848 (T;T) and frontotemporal dementia is now generally assumed in literature, despite some studies failing to reproduce it.First meta-analysis of rs5848 association with Alzheimers disease combining previous five studies for a total of 2502 Alzheimers disease cases and 2162 controls found association in homozygous model (TT vs. CC: OR, 1.36; 95% CI, 1.11-1.66; P=0.003) as well as recessive model.
GUCY2D	Rs61749670	GUCY2D c.389delC.
GYPA	Rs7658293	rs7658293 is a SNP on the GYPA gene known as 72T>G, which can be used to define the MN blood group.
GYPA	Rs7682260	rs7682260 is a SNP in the GYPA gene known as 59C>T, which can be used to define the MNS blood group.
GYPA	Rs7687256	rs7687256 is a SNP in the GYPA gene known as 71G>A, which can be used to define the MNS blood group.As represented on the forward (plus) strand, the rs7687256 (C) allele defines MNS1, which encodes a glycine at the corresponding residue and thereby the M antigen; the rs7687256 (T) allele encodes a glutamic acid and thereby MNS2, which encodes the N antigen.
GYPB	Rs7683365	However, there are reports that while GYPB S/S and GYPB S/s individuals have average susceptibility to being infected with malaria, GYPB s/s individuals are less susceptible to infection.
HBA2	Rs63750067	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
HBA2	Rs281864828	OMIM pathogenic variant.
HBA2	Rs63751269	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
HBB	Rs33950507	It is found primarily in Southeast Asia. rs33950507 (A) is associated with somewhat increased malarial resistance, and in homozygous (A;A) state, with mild hypochromic microcytic anemia.
HBB	Rs34451549	Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3 end TAG-->GAG in a Chinese patient.
HBB	Rs33950507	rs33950507 is a SNP found in the beta hemoglobin HBB gene, not far from the well-known SNP associated with malarial resistance ( rs334, Hb S).
HBB	Rs33974936	23andMe name: i6012428.
HBB	Rs334	The (T) allele appears to have maintained through evolution due to the ~10 fold higher resistance to life-threatening forms of malaria that heterozygotes ( rs334 (A;T) genotypes) exhibit.See the SNPedia sickle cell anemia entry for more information.
HBB	Rs1141387	Modeling effects of human single nucleotide polymorphisms on protein-protein interactions.
HBB	Rs33930165	A study of 4,000+ individuals in Burkina Faso found that rs33930165 (A;G) heterozygotes had a 29% reduction in risk of clinical malaria (p = 0.0008), and rs33930165 (C;C) homozygotes had a 93% reduction (p = 0.0011).
HBB	I3003137	Sickle Cell Anemia and Malaria ResistanceSee also gs228, and gs229 rs334.
HBG1	Rs7482144	Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
HCN1	Rs981782	Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
HCN1	Rs981782	Combined effect of low-penetrant SNPs on breast cancer risk.
HDC	Rs17740607	Relation of polymorphism of the histidine decarboxylase gene to chronic heart failure in han chinese.
HDC	Rs267606861	The HDC gene encodes L-histidine decarboxylase, the rate-limiting enzyme in histamine biosynthesis.Mutations leading to Tourette syndrome have been quite hard to find, and so far, there is only one mutation known: rs267606861 (A).
HERC2	Rs7183877	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br>.
HERC2	Rs7170852	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) (this appears to be the causative SNP) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) (this snp seems flipped, or odd) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br>.
HERC2	Rs1129038	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br>.
HERC2	Rs12913832	Correlations with skin, eye, and hair color variation.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br> blog coverage A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
HEXA	I4000393	Tay-Sachs Disease; infantile form rs147324677.
HEXA	I4000442	Note however that the person may still carry (on their other chromosome 15) a true Tay Sachs causing allele. rs121907970.
HFE	Rs1799945	Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited identified genetic disorder.
HLA-DQB1	Rs1049225	The minor allele, rs1049225 (T) as represented on the minus strand, is associated with reduced risk for CVID (odds ratio 0.56, CI: 0.49 - 0.64, p=4.8 × 10e-16).
HLA-DRB1	Rs2187668	Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study.Kidney Disease.
HLA-DRB1	Rs3135388	Association between rs3135388 (T) allele and multiple sclerosis also seen in 269 Serbian patients, with an odds ratio of 2 for (T) allele carriers.
HLA-DRB1	Rs9270986	This SNP is associated with a higher risk of liver injury in patients taking the nonsteroidal anti-inflammatory drug lumiracoxib, which has been withdrawn from most markets.
HMBS	Rs1057518886	C.400delC (p.Leu134Terfs) appears to be acute intermittent porphyria related but isnt tagged as such in ClinVar.
HNF1B	Rs11649743	rs11649743 identified as one of three HNF1B gene SNPs associated with decreased risk for prostate cancer in two large prospective studies prostate cancer rs4430796 and rs11649743 in multiple populations, with P = 1.7 x 10 (-9).
HNMT	Rs1801105	Asthma related.
HOGA1	Rs138207257	Aka c.860G>T (p.Gly287Val or G287V).
HP	Rs137853233	Aka c.214A>G (p.Lys72Glu) in modern (ClinVar) numbering; however, historically this has been referred to as either Lys-53-Glu or Lys54Glu. rs137853233 (A) encodes the haptoglobin alpha-1 fast allele, which is the Lys amino acid; rs137853233 (G) encodes the slow allele (Glu amino acid).
HPCA	Rs775863165	Two variant alleles are known for rs775863165. the c.212C>A, p.Thr71Asn or T71N variant is reported to be a mutation leading to dystonia 2 (torsion; DYT2), whereas the c.212C>T (p.Thr71Ile) variant, while observed to exist, has not to our knowledge been reported so far in a publication as associated with DYT2.
HPCA	Rs550921485	Aka c.568G>A, p.Ala190Thr or A190T.
HPS5	Rs200449378	OMIM pathogenic variant.
HPS5	Rs766602179	Aka NM_181507.1 (HPS5) :c.1423delC or (p.Leu475Serfs) OMIM pathogenic variant.
HSD3B2	I5003810	rs1219648973 HSDB2 deficiency based on HSD3B2 mutation; congenital adrenal hyperplasia, recessively inherited.
HSD3B2	Rs767167623	rs767167623, also known as c.867delG, represents a rare mutation in the HSD3B2 gene on chromosome 1.
HSPG2	Rs886041667	Aka c.2039_2040delCG (p.Ala680Glyfs).
HSPG2	Rs137853248	Aka c.4595G>A, p.Cys1532Tyr and C1532YOMIM cites a paper stating this mutation as leading to (recessively inherited) Schwartz Jampel syndrome type 1, however, note the mention of a subsequent paper questioning whether there was an additional cause.
HTR2A	Rs3742278	Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.
HTR2A	Rs3125	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs7997012	rs7997012, located in an intron of the HTR2A gene, was found to be associated with a somewhat increased rate of successful response to treatment of depression with the drug citalopram.
HTR2A	Rs659734	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs2770292	Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.
HTR2A	Rs2070037	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs2296972	Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.
HTR2A	Rs1928042	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs1745837	Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.
HTR2A	Rs1328674	rs1328674 is part of a 4-SNP haplotype in the serotonin 2A receptor gene HTR2A that has been associated with rheumatoid arthritis in a study of 1800 European patients.
HTRA1	Rs11200638	rs10490924 and rs11200638 defined 2 significant haplotypes associated with increased risk of neovascular AMD.
HTT	Rs362307	Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntingtons disease patients.Huntington disease press release for a targetted drug.
IDH1	Rs121913499	Aka c.394C>T, p.Arg132Cys and R132CIDH1 variants are sometimes observed as somatic mutations in some glioblastomas.
IDS	Rs1141608	No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.
IFIH1	Rs1990760	Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
IFIH1	Rs35667974	rs35667974, also known as Ile923Val, is a SNP in the interferon induced with helicase C domain 1 IFIH1 gene.A recent study apparently found this SNP had the strongest association with type-1 diabetes; however, in a study of 3,000 European multiple sclerosis patients, no association was seen.
IFIH1	Rs1990760	IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population.
IFIH1	Rs1990760	IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population.
IFIH1	Rs1990760	Shared and distinct genetic variants in type 1 diabetes and celiac disease.
IFIH1	Rs1990760	The association between the IFIH1 locus and type 1 diabetes.
IFIH1	Rs1990760	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
IFIH1	Rs1990760	Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.
IFIH1	Rs1990760	A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.
IFIH1	Rs1990760	A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
IFIH1	Rs1990760	IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.
IFITM3	Rs12252	rs12252 is a SNP in the IFITM3 gene, which encodes the interferon-inducible transmembrane protein.
IFITM5	Rs587776916	Aka c.-14C>TThis IFITM5 gene mutation, c.-14C>T, is located in the 5 UTR region of the gene and appears to account for most cases of dominantly inherited osteogenesis imperfecta, type V..
IGF1	Rs5742629	Bladder cancer SNP panel predicts susceptibility and survival.
IGF1	Rs70961704	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
IGF1R	Rs2229765	rs2229765 (A;A) associated with ischemic stroke (OR = 1.641, P = 0.022) in a Chinese population.
IL10	Rs1800872	The IL-10 promoter haplotype and cancer risk: evidence from a meta-analysis.
IL10	Rs2222202	rs2222202 (C/T) (p=0.03) and rs1800871 (C/T) (p=0.05) showed significant allelic associations with pediatric onset Crohns disease.
IL1B	Rs419598	Also known as the +2018T/C SNP.In a study of 113 Japanese patients with chronic periodontitis (CP), individuals with the rs419598 (C) allele are at 0.29x lower CP risk (p = 0.016).IL1B -511 allele heterozygotes have a 4 fold higher chance of surviving bacterial meningitis than (either) homozygote.
IL1B	Rs419598	SO whats this have to do with rs419598 ?.
IL1B	Rs419598	Odds of surviving meningitis apparently further increase 2X for IL1B -511 heterozygotes who are also rs419598 (T;T), i.e.
IL1B	Rs419598	Homozygous for IL1RN +2018 rs419598 (T) allele (the most common one; also known as +8006).
IL1RN	Rs419598	Also known as the +2018T/C SNP.In a study of 113 Japanese patients with chronic periodontitis (CP), individuals with the rs419598 (C) allele are at 0.29x lower CP risk (p = 0.016).IL1B -511 allele heterozygotes have a 4 fold higher chance of surviving bacterial meningitis than (either) homozygote.
IL1RN	Rs419598	SO whats this have to do with rs419598 ?.
IL1RN	Rs419598	Odds of surviving meningitis apparently further increase 2X for IL1B -511 heterozygotes who are also rs419598 (T;T), i.e.
IL1RN	Rs419598	Homozygous for IL1RN +2018 rs419598 (T) allele (the most common one; also known as +8006).
IL23R	Rs17375018	Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcets disease.
IL23R	Rs1004819	Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohns disease and early disease onset.
IL23R	Rs11209026	Replicated reduced risk for Crohns disease and ulcerative colitis with rs11209026 (A) allele in a study of Italian patients.A genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry, concluded that this SNP and several others were associated with altered risk for the disease.
IL23R	Rs2201841	SNP rs2201841, in the IL23R gene, is associated with increased risk for Crohns disease in both Jewish and non-Jewish populations.
IL2RA	Rs7900744	A general susceptibility locus for autoimmune disease found via 1896 Graves disease patients matched to 1822 controls (P = 4.5 x 10 (-4) ). rs7900744 is in linkage disequilibrium with a polymorphism that increases susceptibility to Graves Disease 1.12 times for carriers of the G allele.
IL2RA	Rs2228149	Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.
IL2RA	Rs7072398	Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.
IL2RA	Rs12722561	Association with multiple sclerosis.
IL2RA	Rs2104286	This SNP was most strongly associated with female patients and those positive for antinuclear antibodies.
IL2RA	Rs12722489	IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways?.
IL2RB	Rs1003694	This SNP is involved in the cytokine signaling sub-pathway /.
IL6R	Rs2228145	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
IL6R	Rs2228145	The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
IL6R	Rs4845618	A study of 219 female melanoma patients and an equal number of controls concluded that 4 linked SNPs within the IL6R gene were associated with increased melanoma risk, but only when heterozygous.
IL6R	Rs4845622	A study of 219 female melanoma patients and an equal number of controls concluded that 4 linked SNPs within the IL6R gene were associated with increased melanoma risk, but only when heterozygous.
IMPDH1	Rs2228075	Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.
IMPDH1	Rs2288549	Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.
INSR	Rs2059806	Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
IRF5	Rs77571059	A 5bp CGGGG indel upstream of IRF5/TNPO3, said to be causative and to explain the previously reported Lupus associations with rs2004640, rs10954213, and rs729302.
IRF7	Rs3758650	rs3758650 is a SNP in the cadherin-related family member 5 CDHR5 gene.A study of 452 Taiwanese patients with gallstone disease found association between rs3758650 and risk for this disorder, with an odds ratio of 1.59 (adjusted p=0.013) for the rs3758650 (A;G) genotype and 5.82 (adjusted p=0.007) for the rs3758650 (A;A) genotype when compared with the reference (G;G) genotype.
IRF8	Rs144424711	OMIM pathogenic variant.
IRS2	Rs1805097	Over 85 years old) or not (less than 85) somehow concluded that rs1805097 (A;A) individuals were about twice as likely to reach extreme old age (odds ratio 2.03, CI:1.39-2.99, p =.0003).
ITGA2B	Rs5911	The rs5911 (C) allele gives rise to the platelet-specific alloantigen known as BAK.Of some historic interest in the field of platelet transfusion, the BAK alloantigen ( rs5911 (C;C) homozygotes) has more recently been reported in a small study of healthy Chinese males to be associated with decreased ex vivo antiplatelet activity of ticagrelor.
ITGB3	Rs3809865	High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
ITPR3	Rs3748079	rs3748079 is a SNP in the promoter region of the ITPR3 gene; it is also known as -1990C>T. rs3748079 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0000000178 with odds ratio of 1.88, CI:1.51-2.35).
JAK1	Rs11208534	Dengue hemorrhagic fever is associated with polymorphisms in JAK1 Mechanisms of type-I- and type-II-interferon-mediated signalling.
JAK2	Rs10974944	rs12343867 rs12340895 rs3780374 rs4495487 rs10974944 Video about this mutation.
JAK2	Rs4495487	23andMe recently replicated this association, though we see a smaller effect &#8212; in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease.
KCNE1	Rs28933384	In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
KCNJ11	Rs5219	But for the 4 SNPs, each risk allele increased type-2 diabetes risk by 1.34x (p=2x10e-6), with an odds ratio of 2.48 (CI: 1.59-3.86) for carriers of 4 or more compared to those with one or none (risk alleles).Genotyping of ~4000 Chinese as well a meta-analysis concluded that rs5219 was associated with type-2 diabetes in Chinese Han and East Asian populations, under a recessive model showing an odds ratio of 1.25 (CI: 1.04-1.5, p=0.017).
KCNQ1	Rs120074177	Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
KCNQ1	Rs120074192	Human KCNQ1 S140G mutation is associated with atrioventricular blocks.
KCNQ4	Rs80358273	Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.
KEL	Rs369569464	The rs369569464 (T) allele is reported to be an allele leading to the Kell null phenotype (when inherited in two copies or with another null allele).23andMe name: i6025264.
KEL	Rs8176058	The K antigen is more potent at triggering an immune reaction than the k antigen.
KIF1A	Rs116297894	Aka c.2676C>T, p.Ala892=, A993AClinVar indicated likely benign for a form of spastic paraplegia (type 30), listed in OMIM as a recessively inherited condition; in, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so rather than benign, it is tagged as of uncertain significance.
KITLG	Rs3782181	Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
KITLG	Rs4474514	Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors.
KITLG	Rs995030	/ 23andMe blog each rs4624820 (G) increases the odds of testicular cancer by 2.5x.<p><br>As reported by the CPMC, relative to men who are rs995030 (G;G), men who are rs995030 (A;G) have a 0.38 relative risk, and those who are (A;A) have a 0.15 relative risk.
KL	Rs564481	Klotho locus, metabolic traits, and serum hemoglobin in hospitalized older patients: a genetic association analysis.
KL	Rs9536314	Variation in longevity gene KLOTHO is associated with greater cortical volumes.
KLF6	Rs3750861	rs10508266 and rs3750861 shows significant association with lung cancer risk rs3750861 affects expression of KLF6 splicing variants in prostate cancer and we found that its rare allele is associated with reduced lung cancer risk.
KRAS	Rs104894365	Aka c.40G>A (p.Val14Ile) 23andMe name: i5002719.
KRAS	Rs112445441	Aka c.38G>T (p.Gly13Val) annotated in ClinVar as a somatic mutation, and also for its PGx association (drug response to cetuximab and panitumumab) 23andMe name for the c.38G>A variant: i5002724.
KRIT1	Rs886039572	Aka c.1807delC (p.His603Metfs).
KRIT1	Rs886043300	Aka c.715C>T (p.Gln239Ter).
KRIT1	Rs267607203	This mutation can also be known as the Common Hispanic Mutation in the lay literature.
KRT5	Rs11170164	/ 23andMe blog rs11170164 T1.35Basal Cell Carcinoma.
LACC1	Rs3764147	Variant in the C13orf31 region associated with increased susceptibility to leprosy, according to the 23andMe blog / 23andMe blog.
LACC1	Rs3764147	The risk allele is G, and the odds ratio is 1.68.Other genes associated with both Crohns disease and leprosy include NOD2 and TNFSF15, according to / 23andMes blog.Leprosy Susceptibility.
LAMA2	Rs12205363	Occurs within the LAMA2 (Laminin alpha-2) gene.
LAMB3	Rs747916314	Aka c.2914C>T (p.Arg972Ter).
LAMC2	Rs141679163	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
LARS2	Rs952621	A 2009 study of 11,163 Dutch participants found no evidence to support previous data indicating a role for SNPs in this gene (LARS2) in type 2 diabetes susceptibility.
LARS2	Rs71645922	A 2009 study of 11,163 Dutch participants found no evidence to support previous data indicating a role for SNPs in this gene (LARS2) in type 2 diabetes susceptibility.
LARS2	Rs17637703	A 2009 study of 11,163 Dutch participants found no evidence to support previous data indicating a role for SNPs in this gene (LARS2) in type 2 diabetes susceptibility.
LDB3	Rs45514002	rs45514002, also known as c.2017G>A, p.Asp673Asn and D673N as well as Asp626Asn, is a rare mutation in the LDB3 gene on chromosome 10.Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.See OMIM 605906.0009.
LDLR	I4000356	Familial hypercholesterolemia; aka FH Lithuania, the most common FH mutation in Ashkenazi Jewssee rs121908027.
LDLRAP1	Rs753151497	Aka NM_015627.2 (LDLRAP1) :c.863C>T or (p.Ser288Leu) OMIM pathogenic variant.
LEP	Rs12706832	Leptin is associated with blood pressure and hypertension in women from the National Heart, Lung, and Blood Institute Family Heart Study.
LIPC	Rs8028759	Sex-specific association of rs261342, rs12593008 and rs8028759 high-density lipoprotein cholesterol.
LIPC	Rs12593008	Sex-specific association of rs261342, rs12593008 and rs8028759 high-density lipoprotein cholesterol.
LIPT1	Rs137891647	rs137891647, also known as c.875C>G, p.Ser292Ter and S292X, represents a rare mutation in the LIPT1 gene on chromosome 2.Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.This mutation is reported based on, and although not annotated as such at the time of this edit, it corresponds to OMIM 610284.0001.
LIPT1	Rs767568897	rs767568897, also known as c.212C>T, p.Ser71Phe and S71F, represents a rare mutation in the LIPT1 gene on chromosome 2.Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.
LOXHD1	Rs988213	This SNP was associated with amyotrophic lateral sclerosis (ALS) based on a study of 1,152 patients.
LOXL1	Rs1048661	PMID 12928689, PMID 10463402, PMID 17224761Discussed in this / blog post Confirmed as risk for pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations of German and Italian descent.
LPA	Rs10455872	Single-nucleotide polymorphisms in LPA explain most of the ancestry-specific variation in Lp (a) levels in African Americans.
LPL	Rs1800590	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
LPL	Rs2197089	Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
LPL	Rs268	Significant interactions between the LPL Asn291Ser variant and fasting glucose, Type-2 diabetes|T2DM, and Heart disease|CHD (Coronary Heart Disease) were seen (P = 0.02, 0.04, and 0.01, respectively).
LRP1	Rs11172113	rs11172113 is a SNP on ch 12q13.3 in the LRP1 gene.A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk changes on its own.
LRP4	Rs4752946	rs4752946 is in linkage disequilibrium with a polymorphism that increases susceptibility to Osteoporotic fractures 1.11 times for carriers of the G allele.
LRP5	Rs724159827	Aka NM_002335.3 (LRP5) :c.4651G>A or (p.Asp1551Asn) OMIM pathogenic variant.
LRP5	Rs61889560	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
LRP5	Rs373910016	Aka NM_002335.3 (LRP5) :c.1360G>A or (p.Val454Met) OMIM pathogenic variant.
LRP5	Rs141178995	OMIM pathogenic variant.
LRPPRC	Rs119466000	rs119466000, also known as c.1061C>T, p.Ala354Val and A354V, represents a rare variant in the LRPPRC gene on chromosome 2.The rs119466000 (T) allele, when inherited recessively, in considered pathogenic for a form of Leigh syndrome known as the French-Canadian type, due to this being a founder mutation in that population.23andMe name: i5012749.
LRRK2	Rs34594498	Some of the studies confirming or refuting this variants role include:<u>Reporting an association:</u> 2015 study reports a ~2x higher risk for PD in Chinese patients and based on meta-analysis; 2011 study reports a ~2x higher risk for PD in Asian patients (but not Caucasians) <u>Finding no association:</u> 2013 study of ~400 Chinese, Malays and Indians finds no association 2012 study of ~600 Taiwenese PD patients reported no association 2012 study of ~1,500 Chinese PD patients reported no association Note that this 2006 study concluded that Ala419Val was a disease-unrelated polymorphism.
LRRK2	Rs34995376	C.4322G>A (p.Arg1441His).
LRRK2	Rs74163686	C.4309A>C (p.Asn1437His or N1437H) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).
LTA	Rs1799724	Pretty low on the 0-10 magnitude scale).In a Chinese study, post-menopausal women were significantly more likely to have low bone mineral density if they had CC-AA genotypes in rs1799724 - rs1800629 a haplotype of rs1799724 - rs1800629 - rs6254 - rs6256 -IL-1ra- rs2227956 - rs1801197 news cigarette smoking and gastric cancer risk.
LTA	Rs909253	Five SNPs in two cytokine genes, tumor necrosis factor-alpha and lymphotoxin-alpha, were associated with a 1.31x increase in non-Hodgkin lymphoma (OR, 1.31; 95% CI, 1.06-1.63; P = 0.01) and with a 1.64x increase in the subtype known as diffuse large B cell lymphoma (OR, 1.64; 95% CI, 1.23-2.19; P = 0.0007).
MAGI2	Rs757863	This SNP was associated with amyotrophic lateral sclerosis (ALS) based on a study of 1,152 patients.
MAOA	Rs6323	Subjects with major depressive disorder with the highest activity form of the enzyme (G or G/G) had a significantly lower magnitude of placebo response.
MAOA	Rs909525	Mentioned as potentially affecting white matter volume, sample size tiny.
MAP2K1	Rs727504317	Aka c.199G>A (p.Asp67Asn).
MAP2K1	Rs121908594	Aka c.158T>C (p.Phe53Ser).
MAP2K2	Rs727504382	Aka c.619G>A (p.Glu207Lys).
MAP3K1	Rs143853590	OMIM pathogenic variant.
MAPT	Rs17650991	Baldness paper from 23andMe June 2012.
MAPT	Rs242557	An initial case-control study of 300 patients with Alzheimers disease found that subjects carrying both the rs2071746 (T;T) and rs242557 (A;A) genotypes had increased risk, however the confidence interval was huge (CI: 1.12-39.29; p = 0.037) and later studies have either failed to replicate the results or shown them to only partially hold in APOE4 carriers.
MAPT	Rs242557	Reports that they found only nominally significant association between Alzheimers and rs242557 in ApoE4 positive individuals.
MBL2	Rs1800450	DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
MC1R	Rs201326893	MC1R gene, c.456C>A (p.Tyr152Ter) Conflicting reports in ClinVar as to pathogenicity of the minor allele.
MC4R	Rs2229616	Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.
MCOLN1	Rs104886461	Somewhere between 1 in 50 and 1 in 150 individuals of Ashkenazi Jewish ancestry are estimated to be (heterozygous) carriers for this SNP.Screening of Ashkenazi Jews for carriers of this SNP is recommended by the American College of Medical Genetics ( ACMG; also: OMIM 605248.0001.
MDM2	Rs2279744	rs2279744, rs1042522, rs17878362 and rs1625895 associated with high grade endometrial cancer.
MECP2	Rs17435	rs17435 is one of several SNPs in the methyl CpG binding protein 2 (MECP2) that have been associated with risk for systemic lupus erythromatosis (SLE).
MECP2	Rs1734791	A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.
MECR	Rs145192716	Aka c.772C>TSee MECR page for extensive discussion.
MEFV	I4000403	Familial Mediterranean Fever rs104895083.
MEFV	Rs104895083	Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
MEFV	Rs28940578	Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
MEFV	Rs3743930	Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
MEFV	Rs61732874	The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.
MET	Rs38850	MET and autism susceptibility: family and case-control studies.
MET	Rs38855	The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population.
MFN2	Rs772701127	rs772701127, also known as c.1894C>T, p.Arg632Trp and R632W, represents a variant in the MFN2 gene on chromosome 1.When inherited recessively, the rs772701127 (T) variant is reported to lead to a relatively mild and late-onset form of Charcot-Marie-Tooth disease, type 2A.
MIR96	Rs546098287	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
MIR96	Rs587776522	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
MIR96	Rs587776523	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
MLLT10	Rs142554860	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
MMAB	Rs369296618	Aka c.700C>T (p.Gln234Ter).
MMACHC	Rs398124292	Aka c.271dupA.
MME	Rs1836915	rs1836915 is a SNP in the membrane metalloendopeptidase MME gene, which is also known as CD10, CALLA or neprilysin. rs1836915 showed the strongest association among several MME SNPs to Alzheimers disease in a study of 298 Caucasian patients.
MMP1	Rs1799750	In general, the insertion genotype (2G/2G) is reported to lead to higher transcriptional activity of this gene, leading potentially to higher levels or rates of collagen breakdown.In a study of ~200 breast cancer patients, those with rs1799750 (G;G) genotype, i.e.
MMP1	Rs1799750	The odds ratio for mixed ethnicities was 3.9 (CI: 1.7-9.4, p=0.001), and when calculated only for Caucasians, 2.6 (CI: 1.0-6.9, p=0.06).Subsequently, a 2012 meta-analysis based on about 10,000 cancer cases, half of which metastasized, concluded that 2G/2G genotypes had a slightly higher overall risk of metastasis (OR = 1.44 for homozygous minor, CI: 1.05-1.98).
MMP3	Rs35068180	See rs3025058, which covers the same polymorphism.
MMP9	Rs3918242	This MMP9 SNP, located at -1,562 in the promoter region, was associated with further progression of breast cancer; in comparison to the (C;C) genotype, the odds ratio for the rs3918242 (C;T) genotype was 3.6 for mixed ethnicities (CI: 1.2-11.1, p=0.001), and for Caucasians only, 9.1 (CI: 1.7-48.4, p=0.01).
MPO	Rs56378716	Aka c.752T>C (p.Met251Thr or M251T).
MSH2	I5900861	Lynch syndrome rs63749831.
MSH2	Rs138068023	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
MSH2	Rs193922376	rs193922376, also known as c.942+3A>T and c.943+3A>T, is a rare mutation in the MSH2 gene on chromosome 2.Acting in an autosomal dominant manner, the rs193922376 (T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.Although still exceedingly rare, this mutation has been cited as perhaps the most common Lynch syndrome mutation.
MSH2	Rs193922376	The frequency of Muir-Torre syndrome among Lynch syndrome families.
MSH2	Rs267607694	Aka both c.1667delT and c.1667dupT; both are considered in ClinVar to be pathogenic for Lynch syndrome.
MSH2	Rs267607920	Aka both c.264dupT as well as c.263_264delTT.
MSH3	Rs70991108	If a carrier of a rs70991108 deletion allele was also a carrier of a rs1801133 (T) allele, the risk for hepatic toxicity was even higher (odds ratio 6.8, p=0.018).Studies have also looked for connections between this SNP and the risk of having a baby born with spina bifida, but the results are inconsistent between studies: PMID 14735580, PMID 15755837: suggested the del/del genotype increased risk for spina bifida and pre-term delivery : suggested that the del/del genotype actually reduced risk for spina bifida : found no connection whatsoever between the del/del genotype and spina bifida risk.
MSH6	I5037859	Prone to miscalls (false positives) ? rs267608099.
MT-CO1	I3000564	Identical to rs41464546,23andMe|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H1a|derived_haplogroup=H1a1|ancestral_allele=T|derived_allele=C}}.
MT-CO1	Rs41464546	Haplogroups|tree=PhyloTree|tree_build=7|ancestral_haplogroup=H1a|derived_haplogroup=H1a1|ancestral_allele=T|derived_allele=C}}.
MT-ND4	I5000099	rs199476112 Lebers Hereditary Optic Neuropathy (LHON).
MTHFD1	Rs370444838	Aka NM_005956.3 (MTHFD1) :c.146C>T or (p.Ser49Phe) OMIM pathogenic variant.
MTHFD1	Rs141210410	OMIM pathogenic variant.
MTHFD1	Rs2236224	No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
MTHFR	Rs59514310	Same as, therefore see, rs1801133.
MTNR1B	Rs10830963	rs3781638 displayed significant association with lower fasting plasma glucose levels and increased OGTT-induced insulin release A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any MTNR1B gene SNP on the risk for type-2 diabetes.
MTR	Rs2853523	Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
MTRR	Rs162049	Pancreatic cancer 702 cases and 785 controls rs162049 p =.024, OR 1.33, CI: 1.11-1.60 rs10380 (His595Tyr) p =.023, OR 1.45, CI: 1.11-1.88.
MTRR	Rs1801394	Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
MTRR	Rs326118	rs326118 is reported to represent a risk factor for abdominal aortic aneurysm (AAA), with odds ratio of 0.47 (CI: 0.29-0.77).
MUC5B	Rs375954692	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
MUTYH	Rs200165598	We encourage other SNPedia (and Promethease) users carrying the rs200165598 (A) variant to report any related evidence for or against this association.Of note, most of those with non-Lynch syndrome polyps were found to have mono-allelic MUTYH variants instead of bi-allelic Research from the online platform FindMyVariant.org has provided confirming evidence that MUTYH rs200165598 is pathogenic, though in the family described the MUTYH variant 536A>G co-occurred.
MYBPC3	Rs121909377	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYBPC3	Rs121909374	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYBPC3	Rs111729952	Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
MYBPC3	Rs112738974	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYBPC3	Rs111729952	Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
MYBPC3	Rs111729952	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYBPC3	Rs111729952	Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
MYH6	MYH6 c.2161	Alpha-MyHC is also associated with a 4.16-beat per minute decrease in heart rate (p=0.0019).The minor allele (T) results in a missense mutation in the MYH6 gene, encoding the alpha-myosin heavy chain (alpha-MyHC) protein.
MYH6	MYH6 c.2161	The p.Arg721Trp variant resides in part of the converter domain of alpha-MyHC and is important for amplifying structural rearrangements of myosin during contraction.
MYH7	Rs121913632	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913641	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913638	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913637	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913631	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913629	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913628	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913626	rs121913626, also known as c.1750G>C and p.Gly584Arg, is a mutation in the MYH7 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.This mutation was the fourth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.Note: 23andMe refers to this SNP as i6015303.
MYH7	Rs121913625	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913624	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYH7	Rs121913630	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs199474809	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs104894368	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs104894369	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs143139258	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs28932774	Familial hypertrophic cardiomyopathysee also OMIM 160781.0005Note: this SNP, rs28932774, appears to tag the same polymorphism as rs104894370.
MYL2	Rs397516399	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL2	Rs397516406	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL3	Rs104893748	Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
MYL3	Rs139794067	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYL3	Rs199474703	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
MYLK	Rs820336	Genetic variation in MYLK and lung injury in children and adults with community-acquired pneumonia.
MYO3A	Rs747952173	Aka c.3126T>G.
MYO7A	Rs111033415	Aka c.1344-2A>G.
MYOC	Rs34928744	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
MYOC	Rs766501882	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
NADSYN1	Rs12785878	rs12785878, located near the 7-dehydrocholesterol reductase DHCR7 gene on chromosome 11q12, has been linked by several studies to vitamin D serum concentrations.In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs12785878 (G).
NADSYN1	Rs12785878	Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs12785878 (T;T) individuals.A near-perfect proxy (i.e.
NALCN	Rs9518307	Unpublished article included as reference in Farmacogen&#233;tica da esquizofrenia claims association with Tardive Dyskinesia.
NAT2	Rs1041983	See the discussion of the NAT2 gene for a more complete explanation.The allele associated with slow NAT2 metabolization for this SNP is rs1041983 (T).
NAT2	Rs1495741	The rs1495741 (A;A), (A;G) and (G;G) genotypes predicted slow, intermediate, and rapid NAT2 acetylation phenotypes, respectively.
NAT2	Rs1799929	See the discussion of the NAT2 gene for a more complete explanation.The risk allele for this SNP is rs1799929 (T).When this SNP is indicative of carrying a NAT2 5A allele, the following may be relevant:A study (based on only 42 patients) found that women with the NAT2 5A slow genotype (which presumably means rs1799929 (T;T) ) had a significantly higher risk of cervical cancer compared with individuals with the NAT2 5A fast genotype (i.e.
NAT2	Rs1799931	See the discussion of the NAT2 gene for a more complete explanation.The risk allele for this SNP is rs1799931 (A).
NDRG1	Rs119483085	In two copies), is reported to be causative for Charcot-Marie-Tooth disease, type 4D.
NF1	Rs1060500254	Aka c.2533T>C (p.Cys845Arg) see NF1.
NF1	Rs199474747	Aka c.2540T>C or p.Leu847Pro, and also c.2540T>G or p.Leu847Argsee NF1.
NFKB1	Rs28362491	rs28362491, also known as the -94 ATTG insertion/deletion polymorphism, is a SNP in the promoter (upstream) region of the NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 gene.Several studies have seen differences between men and women for this SNP (such as ), and others have seen differences between Asians and Caucasians (such as ).
NGF	Rs11102930	Genomic NGFB variation and multiple sclerosis in a case control study.
NLRP12	Rs147080557	OMIM pathogenic variant.
NLRP12	Rs199881207	OMIM pathogenic variant.
NLRP3	Rs200154873	OMIM pathogenic variant.
NOD2	Rs1077861	A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.
NOD2	Rs2066843	rs2066843 increases susceptibility to Crohns disease 4.09 times for carriers of the T allele PMID 17068223, PMID 15571588.
NOS2	Rs8072199	Association of SLC11A1 with tuberculosis and interactions with NOS2A and TLR2 in African-Americans and Caucasians.
NOS3	Rs3918188	Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.
NPHS1	Rs137853042	Aka c.3325C>T (p.Arg1109Ter or R1109X).
NPPA	Rs5065	Experienced more favorable cardiovascular disease outcomes) if treated with the diuretic (in this case, chlorthalidone), whereas rs5065 (A;A) carriers were better off if treated with the calcium channel blocker (in this case, amlodipine).
NR3C1	Rs6198	Genetic modulation of neural response during working memory in healthy individuals: interaction of glucocorticoid receptor and dopaminergic genes.
NR3C1	Rs6196	Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients.
NR3C1	Rs6190	Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome.
NR3C1	Rs1866388	Genetic modulation of neural response during working memory in healthy individuals: interaction of glucocorticoid receptor and dopaminergic genes.
NR3C1	Rs17100498	Gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 5 x 10^-7 for hemoglobin A1c as a result of risperidone use.
NR3C1	Rs2918419	A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.
NRG1	Rs6994992	Paper implicated in schizophrenia effects white matter density and integrity schizophrenia risk-associated The NRG1| neuregulin 1 promoter polymorphism rs6994992 is not associated with neurocognition or chronic schizophrenia in a study of 738 patients T allele (in a per allele fashion) significantly associated with lateral ventricle volume in 95 first-episode schizophrenics points out that their result is that (T) was weakly associated with schizophrenia, however this is the opposite of the original association study where the C allele.
NRXN1	Rs1045881	Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers.
NTRK1	Rs926103	The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis rs926103 and a GA repeat polymorphism forming a risk haplotype for Multiple sclerosis The fact that this is a mixture of a snp and a repeat makes this an interesting test case for Promethease.
OCA2	Rs7495174	The full details on the correspondence between the haplotype and eye color can be found on the OCA2 page.
OCA2	Rs7495174	.This SNP is 1 of 3 SNPs defining a haplotype that has been studied for association with eye color.
OCA2	Rs6497268	Influences appearance.
OCA2	Rs7495174	The (A) allele (in dbSNP orientation) is associated with blue or green eye color in Caucasians.
OCA2	Rs12913832	Correlations with skin, eye, and hair color variation.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br> blog coverage A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
OCA2	Rs11855019	Influences appearance.
OCA2	Rs1129038	In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.The h-1 haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241 (C) <br> rs1129038 (A) <br> rs12593929 (A) <br> rs12913832 (G) <br> rs7183877 (C) <br> rs3935591 (G) <br> rs7170852 (A) <br> rs2238289 (T) <br> rs3940272 (C) <br> rs8028689 (T) <br> rs2240203 (A) <br> rs11631797 (G) <br> rs916977 (G) <br>.
OCA2	Rs4778137	Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
OPN1LW	I5005855	Colorblindness.
OPN1LW	I5005856	Colorblindness.
OPN1MW	Rs35104847	Colorblindness.
OTC	Rs191615506	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
OTC	Rs5963409	This association was independent of age and ApoE status.
OTOF	Rs397515595	The duplication is considered a recessive mutation associated with a form of deafnessthe C/G genotypes, i.e.
PADI3	Rs144080386	Uncombable hair syndrome variant in PADI3 gene, c.881C>T or p.Ala294Val.
PADI4	Rs2301888	rs2301888 increases susceptibility to Rheumatoid Arthritis 1.82 times for carriers of the C allele.
PAH	Rs5030860	This variant is among the most common PKU-associated mutations seen in Scandinavia.While other mutations in the PAH gene may cause phenylketonuria, when inherited recessively, the rs5030860 (G) mutation is associated with non-phenylketonuria hyperphenylalaninemia.
PAH	I4000481	Phenylketonuria rs62508588.
PAH	I4000479	Phenylketonuria rs62516095.
PAH	I3003401	Phenylketonuria rs5030851.
PAH	I3003400	Phenylketonuria rs5030850.
PAH	I3003399	Phenylketonuria rs5030847.
PAH	I3003397	Phenylketonuria rs5030843.
PAH	I4000467	Phenylketonuria rs62514952.
PALB2	Rs515726099	Breast-Cancer Risk in Families with Mutations in PALB2.
PALB2	Rs515726117	Breast-Cancer Risk in Families with Mutations in PALB2.
PARK7	I5047042	rs28938172 Parkinsons disease, type 7.
PAX2	Rs768607170	Aka NM_003990.4 (PAX2) :c.76dupG or (p.Val26Glyfs) OMIM pathogenic variant.
PAX5	Rs6476606	Identification of 15 genetic loci associated with risk of major depression in individuals of European descent, GRS (A>G) =-0.027.
PCDH15	Rs10825264	Identification of genetic variants contributing to cisplatin-induced cytotoxicity by use of a genomewide approach.
PCSK9	Rs28942112	rs28942112, also known as c.646T>C, p.Phe216Leu and F216L, is one of the first mutations in the PCSK9 gene reported to lead to autosomal dominantly inherited familial hypercholesterolemia.See OMIM 607786.0002 for more information.This SNP is referred to as i5000370 by 23andMe.
PCSK9	Rs369067856	PCSK9 mutation; possible association with diabetes, according to.
PCSK9	Rs778796405	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
PDE4D	Rs966221	A study of 639 Chinese stroke patients concluded that the rs966221 (C) allele is associated with increased risk for atherothrombotic strokes (odds ratio 1.51, CI: 1.09-2.10) in this population.
PDHA1	Rs3810710	Deficiences in the PDHA gene may lead, to varying degrees, to lactic acidosis and/or neurological problems.
PDZD7	Rs148695069	OMIM pathogenic variant.
PDZD7	Rs397516633	Aka NM_001195263.1 (PDZD7) :c.2107delA or (p.Ser703Valfs) OMIM pathogenic variant.
PEX10	Rs62636524	The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
PEX7	I5006212	Rhizomelic chondrodysplasia punctata type 1 rs121909153.
PEX7	I5006215	Rhizomelic chondrodysplasia punctata type 1 rs267608255.
PGAM2	Rs10250779	Distribution and effects of nonsense polymorphisms in human genes.
PGR	Rs500760	This SNP in the progesterone receptor PGR gene is not likely to increase the risk of breast cancer.
PGR	Rs529359	Catalog of 668 SNPs detected among 31 genes encoding potential drug targets on the cell surface Epidemiologic Study of Genetic Variation in Hormonal Pathways in Relation to the Effect of Hormone Replacement Therapy on Breast Cancer Risk.
PHIP	Rs200788163	OMIM pathogenic variant.
PHKG2	Rs572115942	The authors conclude that in patients with type-1 diabetes, liver glycogen accumulates due to combination of the mutated enzyme and high blood sugar, leading to the enlarged liver and Mauriac syndrome.
PIEZO1	Rs202103485	Therefore, because the observed frequency is at least 100-fold higher than the estimated prevalence, it is unlikely that either of these variants is actually causative for xerocystosis.
PINK1	Rs28940285	C.1040T>C (p.Leu347Pro or L347P) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6) See also OMIM 608309.000523andMe calls this i3003043.
PINK1	Rs74315356	C.1311G>A (p.Trp437Ter, W437X or W437 ) Considered definitely pathogenic in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6) 23andMe calls this i5003752.
PITX1	Rs11959298	Individuals homozygous or heterozygous for the rs11959298 (A) - rs6596189 (C) haplotype risk allele were 2.54 and 1.59 fold more likely to have autism, respectively, compared to rs11959298 (G) - rs6596189 (T) carriers.Note/caveat emptor: ~90% of the worlds population carries what the authors from this for-profit genetic testing company call the risk haplotype, yet the frequency of autism is less than 1% (perhaps 1 in 150).
PITX1	Rs6596189	Individuals homozygous or heterozygous for the rs11959298 (A) - rs6596189 (C) haplotype risk allele were 2.54 and 1.59 fold more likely to have autism, respectively, compared to rs11959298 (G) - rs6596189 (T) carriers.Note/caveat emptor: ~90% of the worlds population carries what the authors from this for-profit genetic testing company call the risk haplotype, yet the frequency of autism is less than 1% (perhaps 1 in 150).
PKD1	Rs199476102	Polycystic Kidney disease; see OMIM 601313.0015NM_001009944.2:c.12420G>AThe variant allele of this SNP is considered either definitely pathogenic or highly likely pathogenic for autosomal dominant polycystic kidney disease in the PKD Foundation database.
PKD1	Rs1057518604	C.8369delC (p.Pro2790Argfs) Its likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, its also possible that its associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details.
PKD1	Rs1057516206	C.3543T>A (p.Tyr1181Ter).
PKD2	Rs121918041	Aka c.1213C>T (p.Gln405Ter) 23andMe name: i5002465.
PKD2	Rs121918042	Aka c.1390C>T (p.Arg464Ter) 23andMe name: i5002464.
PKHD1	I5007344	rs137852947 see PKHD1.
PKHD1	I5900581	rs137852946 see PKHD1.
PKHD1	I6016629	rs200179145 Polycystic kidney disease.
PKHD1	I6016642	rs201881567 see PKHD1.
PKHD1	I6016654	Autosomal recessive polycystic kidney disease rs200511261.
PKHD1	I6016737	rs755654557 see PKHD1.
PKHD1	I6016785	rs777999875 see PKHD1.
PLD3	Rs145999145	Other rare variants in the PLD3 gene may also influence disease risk.
PLD3	Rs537053537	Aka NM_012268.3 (PLD3) :c.923T>C or (p.Leu308Pro) OMIM pathogenic variant.
PLD3	Rs145999145	A relatively rare variant in this SNP has been linked to a doubling of risk for Alzheimers disease based on seven independent case-control series with a total of more than 11,000 cases and controls of European descent.
PMS1	Rs143265397	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
PMS2	Rs17420802	Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.
PMS2	Rs17420802	Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
POLE	Rs116162724	Aka c.955G>A, p.Asp319AsnHeterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLE	Rs143690372	Aka c.839A>G, p.Lys280ArgHeterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
POLE	Rs5744760	C.1007A>G, p.Asn336SerClinVar consensus is that this variant, rs5744760 (G), is likely to be benign.
POMC	Rs753856820	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
PON1	Rs705379	Variation in the amount of PON1 activity has been reported to primarily involve this SNP, with the following average values of aryesterase activity reported per genotype (sample no.
PON1	Rs705381	In a study of 101 mostly Caucasian patients prescribed the atypical antipsychotic risperidone, carriers of a rs705381 (C) allele were less likely to gain significant weight compared to rs705381 (T;T) carriers, as assessed by physiogenomic analysis of corresponding weight profiles.
PON1	Rs705379	rs705379, also known as -108C/T or -107C/T, is a SNP in the PON1 paraoxonase 1 gene.
PON1	Rs705381	Two other SNPs, rs8179183 and rs6837793, were also significantly associated with weight profiles in these patients.
POT1	Rs758673417	rs758673417, also known as c.1851_1852delTA or p.Asp617GlufsTer9, represents a rare mutation in the POT1 gene on chromosome 7.Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer.
PPARG	Rs10865710	Joint effect of peroxisome proliferator-activated receptor gamma genetic polymorphisms and estrogen-related risk factors on breast cancer risk: results from a case-control study in Taiwan.
PPARG	Rs1175543	Associated with baseline cholesterol levels in a study of 9,000+ individuals in Washington County, Maryland.
PPARG	Rs121909244	Aka c.1484C>T (p.Pro495Leu or P495L).
PPARG	Rs371713160	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
PPARG	Rs3856806	Association of PPAR-gamma gene polymorphisms with obesity and obesity-associated phenotypes in north indian population.
PPP2R5D	Rs863225080	PPP2R5D gene, aka c.1258G>A, p.Glu420Lys and E420KConsidered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and as well as links on PPP2R5D page.
PRDM16	Rs2651899	The odds ratio for the slightly rarer rs2651899 (G) allele was 1.11 (CI: 1.07 - 1.15, p = 3.8 x 10e-9).A 2013 study published by the American Headache Society reports significant influence of rs1835740, LRP1 rs11172113 and PRDM16 rs2651899 polymorphisms on migraine susceptibility in the Northern Indian population.
PRF1	Rs104894176	C.1122G>A (p.Trp374Ter) 23andMe name: i5000837.
PRF1	Rs28933376	C.1304C>T (p.Thr435Met).
PRF1	Rs35947132	C.272C>T (p.Ala91Val or A91V) Macrophage activation syndrome in 13 children with systemic-onset juvenile idiopathic arthritis.
PRF1	Rs786205093	C.207delC (p.Asp70Thrfs).
PRKAG2	Rs121908987	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
PRKAG2	Rs121908991	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
PRKAG2	Rs267606978	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
PRKCG	Rs121918517	rs121908517, also known as c.1081A>G, p.Ser361Gly or S361G, is a SNP in the PRKCG gene on chromosome 19.Based on one publication, the rare rs121908517 (G) allele is reported to lead in a dominant manner to spinocerebellar ataxia, type 14.
PRKCH	Rs2230500	Association of PRKCH gene with lacunar infarction in a local Chinese Han population.
PRKG1	Rs10824310	A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PRNP	Rs74315403	Clinical, pathological, and genetic data were determined for a number of D178N patients, showing that symptoms lay on a spectrum from typical Creutzfeldt-Jakob disease to Fatal Familial Insomnia.
PROC	Rs121918153	Aka c.659G>A (p.Arg220Gln) 23andMe name: i5003621.
PROC	Rs121918156	Aka c.793C>T (p.Leu265Phe) 23andMe name: i5003618.
PROC	Rs757583846	The C>G variant is not recognized in dbSNP, and, it would encode a Arg>Gly change of unknown consequence.
PROS1	Rs6122	Aka c.233C>T (p.Thr78Met).
PROS1	Rs387906675	Aka c.701A>G (p.Tyr234Cys).
PSEN1	Rs63750391	The c.438G>A, c.438G>C and c.438G>T variants are all also known as p.Met146ILe or M146I.All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimers disease, at least according to AlzForum, but no citations are provided.
PSEN1	Rs63750325	rs63750325, also known as c.313T>A, Phe105Ile or F105I, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63750325 (a) allele is considered pathogenic for early-onset Alzheimers disease in AlzForum.Reported in to be a definitely pathogenic mutation.
PSEN1	Rs63750306	The c.436A>C is also known as p.Met146Leu or M146L; the c.436A>G mutation is also known as p.Met146Val or M146V; and the c.436A>T mutation is also known as p.Met146Leu or M146L.All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimers disease and are listed in either ClinVar, OMIM and/or AlzForum.23andMe calls the A>T variant: i5047522The A>C variant is reported in to be a definitely pathogenic mutation.
PSEN1	Rs63749967	rs63749967, also known as c.244G>C, p.Val82Leu or V82L, is a SNP in the presenilin 1 PSEN1 gene.Inherited as an autosomal dominant, the rare rs63749967 (C) allele is considered pathogenic for Alzheimers disease, potentially early-onset, according to AlzForum.Reported in to be a definitely pathogenic mutation.
PSEN1	Rs533487738	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
PSEN1	Rs121917808	Note that the clinical symptoms are reported to potentially include spastic spastic paraparesis (paraplegia).
PSEN1	Rs121917807	C.796G>A (p.Gly266Ser) 23andMe name: i5007548.
PSEN1	Rs63749824	This suggests that this mutation spans a large range of age of onsets (53–78 y), which the authors state could lead to underestimation of its frequency and is of importance for genetic counseling.
PSEN2	Rs63750812	However, the AlzForum also reports that No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in A&#946;42 levels or the A&#946;42/A&#946;40 ratio, and in combination with the original report, this allele may be more of a predisposing than causative mutation.
PSEN2	Rs200670135	This study of UK patients with late-onset Alzheimers disease concludes this variant is most likely pathogenic, although note that the onset may be quite late (87 years of age).
PSEN2	Rs574125890	Note the presence of another variant for this SNP, c.640G>A, of unknown pathogenicity.The minor allele is reported as pathogenic for Alzheimers disease in the AlzForum database, based on two publications, including.
PSEN2	Rs61757781	Genetic screening of Alzheimers disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
PSEN2	Rs61757781	Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimers disease families.
PSEN2	Rs63749851	rs63749851, also known as c.364A>C, T122P or Thr122Pro, is a SNP in the presenilin 2 PSEN2 gene.Inherited as an autosomal dominant, the rare rs63749851 (C) allele is considered causative for early-onset Alzheimers disease, as reported in.
PTPN11	Rs11066320	SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women.
PTPN22	Rs2488457	Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves disease in a Japanese population.
PTPN22	Rs3765598	rs3765598 is in linkage disequilibrium with a polymorphism that increases susceptibility to Rheumatoid Arthritis 1.40 times for carriers of the T allele.
PTS	Rs3819331	Examination of tetrahydrobiopterin pathway genes in autism.Examination of association to autism of common genetic variation in genes related to dopamine.
PYGM	Rs119103257	PYGM gene, c.1621G>T, p.Glu541Ter or E541X23andMe name: i5005807.
PYGM	Rs119103255	PYGM gene, c.1726C>T, p.Arg576Ter or R576X23andMe name: i5005804.
PYGM	Rs119103253	PYGM gene, c.1963G>A, p.Glu655Lys or E655K23andMe name: i5005801.
RAD50	Rs2706347	Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
RAD51C	Rs587781410	Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in.
RAD51D	Rs753862052	Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in.
RAF1	Rs121434594	Aka c.781C>T (p.Pro261Ser) 23andMe name: i5008105.
RAF1	Rs397516826	Aka c.768G>T (p.Arg256Ser) and also c.768G>C (p.Arg256Ser).
RAF1	Rs80338797	Aka c.1837C>G (p.Leu613Val).
RB1	Rs387906521	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RB1	Rs387906520	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RET	Rs201740483	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
RET	Rs2506030	Patients can be classified into 3 sub categories based on the length of the colon: short segment, long segment, or total colonic aganglionosis (TCA).
RMRP	Rs772443941	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs786204684	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs761398394	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs753874439	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs772665785	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs74810894	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs551450545	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs533294975	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs199476103	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RMRP	Rs748623920	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
RTEL1	Rs2297441	Investigation of reported associations between the 20q13 and 21q22 loci and pediatric-onset Crohns disease in Canadian children.
RUNX1	Rs2268277	rs7528684 rs3792876 and rs2268277 failed to showed a statistically significant association with rheumatoid arthritis rs2268277, a SNP in the RUNX1 gene, has been associated in a Japanese population with rheumatoid arthritis at at odds ratio of 1.28 (CI = 1.10&#226;&#8364;&#8220;1.48).
RYR1	Rs63749869	rs63749869, aka p.Arg4861His or p.R4861H, is a SNP in the RYR1 gene associated with central core disease as well as a congenital neuromuscular disease.
RYR1	Rs28933396	rs28933396, aka p.Arg2435His or p.R2435H, is a SNP in the RYR1 gene associated with central core disease.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
RYR1	Rs193922809	rs193922809, aka p.Ala2428Thr or p.A2428T, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i6017703.
RYR1	Rs193922753	rs193922753, aka c.488G>T, p.Arg163Leu or p.R163L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.23andMe name: i6017694.
RYR1	Rs193922764	Aka c.1201C>T (p.Arg401Cys or R401C) 23andMe name: i6017662.
RYR1	Rs121918595	rs121918595, aka p.Thr4826Ile or p.T4826I, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name: i6017603.
RYR1	Rs118192167	Aka c.14387A>G (p.Tyr4796Cys or Y4796C) 23andMe name: i5000022.
RYR1	Rs118192162	rs118192162, aka c.1565A>C (p.Tyr522Ser or Y522S) and also c.1565A>G (p.Tyr522Cys or Y522C), is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.23andMe name for c.1565A>G: i6017825.
RYR1	Rs1801086	Aka c.742G>C (p.Gly248Arg) and also c.742G>A (p.Gly248Arg). both are pathogenic23andMe name for c.742G>A: i3002484.
RYR2	Rs2056387	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
SACS	I5012578	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described in French-Canadian individuals from the Charlevoix and Saguenay-Lac-St-Jean regions of northeastern Quebec.
SARDH	Rs149391396	rs149391396, also known as R723X, is a variant in the sarcosine dehydrogenase SARDH gene that has been reported to cause sarcosinemia, a condition brought about through autosomal recessive inheritance.In dbSNP orientation for this SNP, the variant (rare) allele is rs149391396 (A).
SARDH	Rs149481147	rs149481147, also known as P287L, is a variant in the sarcosine dehydrogenase SARDH gene that has been reported to cause sarcosinemia, a condition brought about through autosomal recessive inheritance.In dbSNP orientation for this SNP, the variant (rare) allele is rs149481147 (A).
SCARB1	Rs1672879	In the resulting meta-analysis, rs1672879 (C) allele, as oriented in dbSNP, was associated with lycopene concentrations (p < 2.68 &#215; 10e&#8722;9), with each C allele resulting in a 12% decrease in lycopene concentrations for African Americans, a 20% decrease for Hispanic Americans, and a 9% decrease for European Americans.
SCARB1	Rs4238001	Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia.
SCN3A	Rs758906955	Aka NM_006922.3 (SCN3A) :c.4114A>G or (p.Met1372Val) OMIM pathogenic variant.
SCN4A	Rs751368967	Aka c.2045C>G (p.Ser682Trp) Possible association of minor allele of this SCN4A gene variant with predisposition to Sudden Infant Death Syndrome, based on exome analysis.
SCN4A	Rs774453167	Aka c.4387C>A (p.Arg1463Ser) Possible association of minor allele of this SCN4A gene variant with predisposition to Sudden Infant Death Syndrome, based on exome analysis.
SCN5A	Rs137854604	The patient did not have typical ECG findings of Brugada syndrome.This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
SCN8A	Rs1601012	Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population.
SCN9A	Rs6746030	rs6746030 is a SNP in the sodium channel Nav1.7 SCN9A gene.In five cohorts tested, totaling 1,277 individuals, the rarer rs6746030 (A) allele was associated with increased pain (p=0.0001).
SCN9A	Rs4369876	It is unclear how this can be reconciled with the reports of decreased pain associated with this complex allele.
SCN9A	Rs121908909	rs121908909, also known as c.2691G>A, p.Trp897Ter and W897X, is a rare mutation in the SCN9A gene on chromosome 2.Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
SDHB	Rs398123690	Aka c.112delG as well as c.111_112dupGG; both are considered in ClinVar to be pathogenic, either for pheochromocytomas or a hereditary cancer predisposing syndrome, respectively.
SDHD	Rs11214077	Somewhat rare (~0.5%) allele frequency, but nowhere near as rare as the 1:100,000 incidence of the rare cancers cited in the OMIM entry for this variant.
SERPINA1	Rs267606950	C.552delC (p.Tyr184Terfs, Y160X, p.Tyr160Ter). also known as PI null (Granite Falls).
SERPINA1	Rs709932	Finds no association between rs709932 and pulmonary emphysema.
SERPINA1	Rs17580	A relatively small study of 182 patients found no association between rs17580 and risk for cholangiocarcinomaAlpha-1 Antitrypsin Deficiency.
SERPINE1	Rs1799889	No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimers disease in Chinese Han population.
SERPINE1	Rs1799889	Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimers disease.
SERPING1	Rs1064793350	NM_000062.2 (SERPING1) :c.512C>T (p.Pro171Leu) 23andMe name for c.512C>A: i6018350.
SERPING1	Rs1085307611	NM_000062.2 (SERPING1) :c.936delC (p.His314Thrfs).
SERPING1	Rs2511989	News rs2511989 not associated with AMD rs2511989 (A;A) had a protective effect against age related macular degeneration.Comparison of the rs2511989 (A;G) genotype and the wild type (G;G) genotype yielded an odds ratio of 0.63 (CI: 0.47 to 0.84) for age-related macular degeneration.Comparison of rs2511989 (A;A) homozygotes with (G;G) homozygotes resulted in an odds ratio of 0.44 (CI: 0.31 to 0.64).
SETD1A	Rs869312832	Also known as c.2171dupC and p.Ala725Serfs Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
SGSH	Rs1459579613	Aka c.1093C>T.
SH2D1A	Rs111033625	Aka c.385T>A (p.Ter129Arg) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar.
SH2D1A	Rs111033628	Aka c.172C>T (p.Gln58Ter) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar23andMe name: i5003047.
SH2D1A	Rs111033629	Aka c.3G>T (p.Met1Ile) considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar.
SH2D1A	Rs587777612	Aka c.137+5G>Cconsidered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar.
SH3TC2	Rs80338918	Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
SH3TC2	Rs80338920	Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
SH3TC2	Rs80338923	Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
SH3TC2	Rs80338925	Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
SHANK3	Rs397514705	For rs397514705 (G), a 2013 publication reports a 25-year-old African-American woman with developmental delay, seizures, mild facial dysmorphism, and an autism-like disorder consistent with Phelan-McDermid syndrome.See also OMIM 606230.0006.
SIX5	Rs55938914	) OMIM pathogenic variant.
SLC12A3	Rs1529927	This SNP is cited in US patent 10,465,246 (2019), where one of the claims is prescribing a hydrochlorothiazide to a patient as a first line therapy (for high blood pressure), without a beta blocker and without a vasodilator, if the patient carries a rs1529927 (T).
SLC12A6	Rs121908428	Note that 23andMe reports this SNP from the opposite strand as dbSNP, so for their equivalent SNP, i5012575, the risk allele is (A).
SLC17A5	Rs80338794	rs80338794, also known as c.115C>T, R39C or Arg39Cys, is a rare mutation in the sialin protein SLC17A5 gene leading to Salla disease, a neurodegenerative disease primarily associated with Finland and Sweden.23andMe name: i5012634.
SLC1A2	Rs781379291	Aka NM_004171.3 (SLC1A2) :c.866C>G or (p.Pro289Arg) OMIM pathogenic variant.
SLC1A2	Rs752949	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs4756224	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs4534557	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs4755404	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs1923298	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs3838796	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs1923295	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs1885343	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC1A2	Rs1570216	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
SLC22A4	Rs272893	rs272893 and rs273900 are associated with Crohns disease (OR 2.16; 95% CI 1.21-3.59 and OR 2.40; 95% CI 1.43-4.05).
SLC22A4	Rs3792876	The risk allele is rs1050152 (T).A nearby SNP in the promoter region of the SLC22A5 gene defines a haplotype along with rs3792876, with odds ratio reported as similar for either SNP or the haplotype.
SLC22A4	Rs272879	Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.
SLC22A5	Rs2631372	rs2631372 increases susceptibility to Crohns disease 1.28 times for carriers of the C allele.
SLC22A5	Rs28383481	Minor allele should be reclassified as benign according to.
SLC26A2	Rs386833492	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
SLC26A4	I5000002	Hearing lossPendred Syndrome rs121908362.
SLC26A4	Rs111033212	rs111033212, also known as c.1003T>C, p.Phe335Leu or F335L, represents a rare mutation in the SLC26A4 gene on chromosome 7.Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) to be pathogenic for Pendred Syndrome or a form of deafness, autosomal recessive 4, with enlarged vestibular aqueduct.
SLC2A9	Rs16890979	See also: / 23andMe blog goutIndependently, a large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC).
SLC2A9	Rs13129697	Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.
SLC2A9	Rs3775948	Gout association, based on note that due to the possibility of ambiguous flipping between the C/G alleles of this SNP, care should be taken in interpreting alleles.
SLC34A3	Rs121918237	This is a very rare minor allele; observed only 2 times out of 26568 alleles in ExAC, 0 homozygotes, and a MAF of 0.000075.A report published in 2006 indicates that the rare (A) allele was one of two compound heterozygote mutations inherited in recessive fashion together that led to hypophosphatemic bone disease.See also OMIM 609826.0006.
SLC37A4	Rs121908980	Glycogen storage disease type Ib without neutropenia.
SLC37A4	Rs80356491	rs80356491, also known as 1042_1043delCT or 1211-1212delCT, is a SNP in the solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 gene.This mutation is reported by 23andMe as accounting for approximately 30% of glycogen storage disease type 1b-causing mutations in people of European ancestry; 23andMe uses the term i5012880 for this SNP.
SLC39A4	Rs121434288	Aka c.1576G>A (p.Gly526Arg).
SLC45A2	Rs16891982	Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations.Squamous Cell Carcinoma.
SLC4A1	Rs121912749	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
SLC5A2	Rs61742739	The rs61742739 (G) allele was reported along with another SLC5A2 mutation in a patient with glycosuria, implying it is recessive, which was also consistent in that the patients parents, one of whom was heterozygous for rs61742739 (G), were not reported as having glycosuria.However, GET-Evidence states that some authors believe this variant is nonpathogenic.
SLC6A2	Rs1532701	Trajectories of change in depression severity during treatment with antidepressants.Pharmacogenomics of antidepressant drugs.
SLC6A2	Rs1566652	G allele associated with better response to treatment of ADHD with atomoxetine.
SLC6A2	Rs3785152	T allele associated with better response to treatment of ADHD with atomoxetine.
SLC6A2	Rs734980	G allele associated with better response to treatment of ADHD with atomoxetine.
SLC6A2	Rs998424	Genetic influences on attention deficit hyperactivity disorder symptoms from age 2 to 3: a quantitative and molecular genetic investigation.
SLC6A3	Rs27072	The role of dopamine transporter (SLC6A3) and dopamine D2 receptor/ankyrin repeat and kinase domain containing 1 (DRD2/ANKK1) gene polymorphisms in personality traits.Alcohol Dependence.
SLC6A3	Rs464049	Genome-wide and candidate gene association study of cigarette smoking behaviors.
SLC6A3	Rs27048	rs27048, a SNP in the dopamine transporter SLC6A3 gene, has been associated with more severe symptoms upon alcohol withdrawal, such as seizures, in a study of 250 Caucasian alcohol-dependent patients.
SLC6A4	Rs140701	This SNP was actually part of a tightly linked haplotype A-A-G (for SNPs rs3794808, rs140701 and rs4583306, respectively) that had 1.7x increased risk for panic disorder (CI: 1.2-2.3).
SLC6A4	Rs25528	Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
SLC6A8	Rs80338740	X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
SLC9A9	Rs9828519	A pharmacogenetic study implicates SLC9A9 in multiple sclerosis disease activity.An association was observed between rs9828519 (G) and nonresponse to IFN&#946; treatment for multiple sclerosis (p discovery&#8201;=&#8201;4.43 &#215; 10e&#8722;8), which was then confirmed in a meta-analysis across 3 replication data sets (p replication&#8201;=&#8201;7.78 &#215; 10e&#8722;4).
SLCO1B1	Rs2306283	UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association?.
SMOC2	Rs13208776	rs13208776 is a SNP in the SPARC related modular calcium binding 2 SMOC2 gene.A genome-wide association study (GWAS) of generalized vitiligo in 32 distantly related affected patients from a remote Romanian village identified rs13208776 as highly associated with the disorder, at an odds ratio of 7.445 (CI: 3.5-15.3, p=8x10e-8) and a population attributable risk of 28.
SMPD1	Rs120074117	The first is annotated in ClinVar by multiple submitters as pathogenic for Niemann-Pick Disease type A; the latter is annotated as likely pathogenic for Niemann-Pick Disease type B. Niemann-Pick Disease Type A.
SNAP25	Rs362988	Role of SNAP25 explored in eastern Indian attention deficit hyperactivity disorder probands.
SNAP25	Rs353016	For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP).
SNCA	Rs356168	rs356168 represents a common SNP in an untranslated region of the SNCA gene on chromosome 4.The rs356168 (A) allele yields a slightly reduced risk for Parkinsons disease compared to the more common (G) allele.An in vitro study of the effect of the rs356168 (G) allele concludes it leads to increased transcription of the corresponding SNCA allele, which the authors feel is a credible explanation for the slight increase in risk for Parkinsons.
SNX10	Rs772724819	rs772724819, also known as c.212+1G>T, is a rare variant in the SNX10 gene. rs772724819 (T) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.In Northern Sweden, a study of nine individuals with this mutation showed (via haplotype analysis) that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years.
SNX10	Rs587777490	SNX10 gene, c.46C>T (p.Arg16Ter) rs587777490 (T) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.
SOD1	Rs7277748	ALS rs7277748.
SOD2	Rs5746136	|OA=1}}.
SOD2	Rs4880	rs2758346 rs4880 and rs2855116 association with Alzheimers disease.
SOS1	Rs397517164	Aka c.322G>A (p.Glu108Lys).
SOX5	Rs869025321	rs869025321, also known as c.1021G>T, p.Gly341Ter and G341X, represents a very rare mutation in the SOX5 gene on chromosome 12.Inherited as an autosomal dominant mutation, rs869025321 (T) is reported to lead to Lamb-shaffer syndrome, a disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features.
SOX5	Rs11047102	rs11047102 is associated with systemic sclerosis.
SPR	Rs1876487	Sepiapterin reductase expression is increased in Parkinsons disease brain tissue.
SPR	Rs387907200	Aka c.304G>T (p.Gly102Cys).
SPR	Rs398122922	Aka c.596-2A>G.
SPR	Rs587776777	Aka c.448_452delAGAAC (p.Thr151Glyfs).
SPR	Rs750423023	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
SRD5A2	Rs12470143	Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
SRD5A2	Rs9282858	rs9282858 ) variant in prostate cancer risk..
SREBF1	Rs1889018	rs1889018 is one of several SNPs associated with the SREBF1 gene that show a modest association with type-2 diabetes.A study of ~2,000 Caucasian patients (and 10,000+ controls) led to an odds ratio of 1.12 (CI: 1.01-1.24, p=0.04) for the minor (risk) allele, rs1889018 (T).
STAG3	Rs587777267	C.561delC (p.Gln188Argfs).
STAT3	Rs4796793	rs4796793, a SNP in the 5 region of the signal transducer and activator 3 STAT3 gene, has been linked in a study of 75 Japanese patients to (successful) response to interferon-alpha immunotherapy for metastatic kidney cancer.
STAT4	Rs7582694	Several tightly linked SNPs in the STAT4 gene have been linked to risk for risk haplotype for systemic lupus erythematosus (SLE).
STAT4	Rs7582694	A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population.
STK11	Rs1131690925	C.367C>T (p.Gln123Ter) 23andMe name: i6018865.
TAF1	Rs864321627	C.4010T>C (p.Ile1337Thr).
TAP2	Rs241448	This SNP, located in the TAP2 gene and thus implicated in the activation of HIV and HSV-1 viruses, is seen more commonly in ~300 Alzheimer patients than in the same number of controls.
TARDBP	Rs387906334	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TAS2R38	Rs10246939	rs10246939 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter the taste of the compound phenylthiocarbamide (PTC) and similar molecules in foods (like cabbage and raw broccoli) or drinks (like coffee and dark beers).The rs10246939 (C) allele, in the orientation shown in dbSNP, is the tasting allele, and it is dominant to the non-tasting allele rs10246939 (T), so having one copy is enough to have the bitter tasting ability.
TAZ	Rs587776741	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TAZ	Rs387907218	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TAZ	Rs132630277	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TAZ	Rs104894937	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TAZ	Rs104894941	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TAZ	Rs104894942	Barth syndrome, also known as 3-Methylglutaconic aciduria type 2.
TBC1D4	Rs61736969	Study A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes found association with higher 2 hour plasma glucose (&#946; = 3.8&#8201;mmol&#8201;l&#8722;1, P = 2.5&#8201;&#215;&#8201;10&#8722;35 homozygous) and serum insulin (&#946; = 165&#8201;pmol&#8201;l&#8722;1, P = 1.5&#8201;&#215;&#8201;10&#8722;20 homozygous) and subset of diabetes that features deterioration of postprandial glucose homeostasis among Greenlandic population.
TBX15	Rs984225	This SNP is associated to excessive hairiness.
TBX21	Rs9910408	Approximately 600 Caucasian families with or without adults and children with asthma were genotyped for several TBX21 SNPs and also screened for signs of airway hyperresponsiveness rs9910408 (A;A) and rs9910408 (A;G) carriers were seen to be more sensitive than rs9910408 (G:G) homozygotes among children, and possibly adults.
TBX21	Rs2074190	Note that in this population, but perhaps not others, linkage disequilibrium exists between this SNP located in the first exon, rs2074190, and a SNP located upstream of the gene, rs4794067, with a predictive accuracy of 92%.
TBX21	Rs2240017	These heterozgotes are reported to improve better over time in response to corticosteroid treatment for asthma than the rs2240017 (G;G) homozygotes.
TCF7L2	Rs12255372	Key papers include: is the paper which links it to Breast cancer.
TCN2	Rs1801198	Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
TCOF1	Rs15251	rs2255796 and rs15251 suggested excess maternal transmission and may influence risk of cleft palate.
TCOF1	Rs2255796	rs2255796 and rs15251 suggested excess maternal transmission and may influence risk of cleft palate.
TERC	Rs199422277	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs540289812	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422287	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422284	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422281	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422280	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422279	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422275	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422276	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422274	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422273	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422272	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422269	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422268	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422265	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422261	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERC	Rs199422260	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TERT	Rs2242652	Genetic variants in telomere-maintaining genes and skin cancer risk.
TF	Rs1799852	These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.
TFAM	Rs2306604	PARK2 variability in Polish Parkinsons disease patients--interaction with mitochondrial haplogroups.
TFR2	Rs7385804	TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.
TFR2	Rs80338876	New TFR2 mutations in young Italian patients with hemochromatosis.
TFR2	Rs80338885	A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
TFR2	Rs80338890	New TFR2 mutations in young Italian patients with hemochromatosis.
TG	Rs2076740	Researchers found that polymorphisms of the TG genes exon 33 SNP rs2076740 significantly increased the odds of autoimmune hypothyroidism: Odds ratios were for TT, 1.0 (Genotypes were similar between patients and controls) for TC, 7.519 (95%CI 2.329 to 24.27, p=0.0003) compared to AA (7.729 after adjustment for age and gender).
TGFB1	Rs11466314	Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
TGFB1	Rs11466345	The haplotype carrying both variants was also statistically significantly associated with a reduced risk of adenocarcinoma (OR, 0.3; 95% CI, 0.1-0.8).
TGFB1	Rs1800471	It is reported to predispose several organs to fibrosis, and in relation to Crohns disease, it was associated with stricturing Crohns disease (odds ratio 2.63, CI: 1.16-5.88, p=0.01) and a shorter time to intestinal resection (p = 0.06) in a study of several hundred Australian patients.
TGFB1	Rs2241712	Although smoking is the main risk factor, smokers with a rs2241712 (A) allele (or 2 other TGFB1 SNPs, rs1982073 and rs1800469 ) were more likely to develop COPD, based on a study of ~700 Caucasian subjects asthma rs2241712 (A) and rs1800469 (C) associated with increased airway responsiveness.
TGFB3	Rs387906514	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TGFB3	Rs770828281	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
TGFBR1	Rs868	rs868 is a SNP in the transforming growth factor, beta receptor I TGFBR1 gene.A total of 1,157 Spanish cases with urothelial cell carcinoma of the bladder and 1,157 matched controls were analyzed for TGFBR1 SNP associations, and among patients with muscle-invasive bladder cancer tumors, a significant association between rs868 and disease-specific mortality was found, with an allele dosage effect (p-trend = 0.003).
TGFBR2	Rs1078985	A 2009 report concludes that SNPs in the TGFBR2 gene do not appear to affect risk of abdominal aortic aneurysm (AAA).
TLR2	Rs1898830	rs1898830, known as -15607A/G and located in the first intron of the TLR2 gene, is associated with an increased risk for shedding and lesion frequency of genital herpes simplex virus type 2 HSV-2 outbreaks.The risk allele is (G).Note that the increased risk is not that great; median shedding rate was 16.7% for (G) allele carriers vs 12.0% when it was absent (= risk ratio for a dominant effect of 1.60), and the median lesional rate was 10.4% for (G) carriers vs 5.3% for non-carriers (risk ratio 2.16).
TLR3	Rs3775291	Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.
TMC1	Rs121908073	Aka c.100C>T (p.Arg34Ter or R34X) 23andMe name: i5003572.
TMPRSS6	Rs855791	TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.
TNF	Rs1799724	Pretty low on the 0-10 magnitude scale).In a Chinese study, post-menopausal women were significantly more likely to have low bone mineral density if they had CC-AA genotypes in rs1799724 - rs1800629 a haplotype of rs1799724 - rs1800629 - rs6254 - rs6256 -IL-1ra- rs2227956 - rs1801197 news cigarette smoking and gastric cancer risk.
TNF	Rs1800610	rs1800610 increases susceptibility to Type II Diabetes 1.42 times for carriers of the T allele.
TNF	Rs361525	rs1800629 rs1799724 rs909253 rs2239704.
TNFRSF1A	Rs767455	Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
TNFRSF1A	Rs104895228	Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.
TNFRSF1A	Rs104895225	The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
TNNI3	Rs397516357	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	Rs397516354	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	Rs397516353	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	Rs397516351	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	Rs397516349	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNI3	Rs267607130	rs267607130, also known as c.106A>C, p.Lys36Gln and K36Q, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs267607130 (C) allele is reported to lead to dilated cardiomyopathy, type 1FF.
TNNI3	Rs267607128	rs267607128, also known as c.61C>T, p.Arg21Cys and R21C, represents a rare mutation in the TNNI3 gene on chromosome 19.A single copy of the rare rs267607128 (T) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7.
TNNI3	I5007731	rs104894728 familial hypertrophic cardiomyopathy, type 7.
TNNI3	I5048716	rs104894729 familial restrictive cardiomyopathy, type 1.
TNNI3	I5048707	rs267607128 familial hypertrophic cardiomyopathy, type 7.
TNNI3	I5007732	rs104894729 familial restrictive cardiomyopathy, type 1.
TNNI3	I5007730	rs104894727 familial hypertrophic cardiomyopathy, type 7.
TNNI3	I3002796	rs104894724 familial restrictive cardiomyopathy, type 1.
TNNI3	Rs104894725	For more information, see OMIM 191044.0002.This mutation is referred to as i5007728 by 23andMe.
TNNT2	Rs397516457	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs727504246	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs397516470	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs397516463	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs397516456	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs397516455	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs376923877	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs3729547	Both conditions lead to an overall weakening of the heart muscle and can lead to heart failure or sudden cardiac death.
TNNT2	Rs121964856	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TNNT2	Rs121964855	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TOR1A	Rs1182	The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
TP53	Rs1042522	Patients with variant TP53 genotypes either for the Arg72Pro or the PIN3 polymorphism were at increased risk of telangiectasia, a late skin side effect of radiotherapy following breast-conserving surgery.
TPCN2	Rs35264875	Blonde hair color.
TPCN2	Rs3829241	The A allele was significantly associated with blonde versus brown hair with a P-value 6.2e-16Summaried in gnxp.
TPH2	Rs7963720	Only for Hispanics, individuals who have a genoset composed of rs1799913 (C;C) and rs7963720 (T;T) are reported to be at 14x higher risk for developing heroin addiction (CI:0.83-244.63, p=0.012).
TPH2	Rs4570625	Common variants in the TPH2 promoter confer susceptibility to paranoid schizophrenia.
TPH2	Rs1843809	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
TPH2	Rs17110563	The minor allele of this SNP yielded an odds ratio of 4.8 (CI:1.6-14.8) for increased risk for bipolar disorder in a study of 883 Russian patients.
TPH2	Rs1386496	Effect of tryptophan hydroxylase-2 gene variants on suicide risk in major depression.
TPH2	Rs11178997	Common variants in the TPH2 promoter confer susceptibility to paranoid schizophrenia.
TPM1	Rs199476315	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TPM1	Rs28934270	Familial hypertrophic cardiomyopathysee also OMIM 191010.0002Note: This SNP, rs28934270, appears to identify the exact same polymorphism as rs104894503.
TPM1	Rs727503518	The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to.
TPMT	Rs1800584	rs1800584 is a rare SNP in the TPMT gene, potentially encoding a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs.
TPMT	Rs1142345	In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced.The risk allele for this SNP is rs1142345 (G), and when it is the only variant in the TPMT gene, it encodes the TPMT 3C allele.
TPO	Rs732609	The heterozygous polymorphism (AC) gave 0.87x lower risk of hypothyroidism among Italians, but 2x increased risk among Spanish.
TPO	Rs732609	Thyroid cancer risk 0.93 among Italians, 1.7 among Spanish.
TREM2	Rs104894002	Aka c.97C>T (p.Gln33Ter or Q33X) In 2003, researchers concluded that inheriting two copies of rs104894002 (T) led to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), also known as Nasu-Hakola disease.More recently (in 2019), a publication concluded that inheriting one copy of the rs104894002 (T) allele gives rise to late-onset Alzheimers disease, with this variant appearing to be a fully penetrant mutation among persons surviving to late age (although the authors admit that this is speculative, given the low number of patients known to date).
TRIM2	Rs879253863	Aka NM_015271.4 (TRIM2) :c.2000A>C or (p.Asp667Ala) OMIM pathogenic variant.
TRIP13	Rs376882637	Aka NM_004237.3 (TRIP13) :c.1060C>T or (p.Arg354Ter) OMIM pathogenic variant.
TRPC6	I5005219	Focal segmental glomerulosclerosis 2 rs121434392.
TRPC6	I6019084	Focal segmental glomerulosclerosis 2 rs121434392.
TRPC6	Rs121434395	Focal segmental glomerulosclerosis 2Called i6019089 and i5005222 by 23andMe.
TRPM4	Rs201907325	rs201907325, also known as c.1294G>A, p.Ala432Thr and A432T, represents a rare mutation in the TRPM4 gene.The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
TRPM4	Rs172149856	An additional mention is found in OMIM 606936.0005.
TRPM6	Rs2274924	4.9x risk of type-2 diabetes among women carriers of both the rare alleles at rs3750425 and rs2274924 when their magnesium intake was lower than 250 mg per day.
TRPM6	Rs3750425	4.9x risk of type-2 diabetes among women carriers of both the rare alleles at rs3750425 and rs2274924 when their magnesium intake was lower than 250 mg per day.
TSHR	Rs4704397	However, maternal PDE8B genotype was not associated with offspring birthweight or gestational age at delivery.
TSHR	Rs2268458	rs2268458 was associated with Graves disease.
TSHR	Rs225014	Abstract stated Patients carrying D2 Ala/Ala genotype had a higher fasting plasma insulin and HOMA (IR) index as compared to patients carrying Thr/Ala or Thr/Thr genotypes (P = 0.022 and P = 0.001, respectively).
TSHR	Rs121908866	Aka c.1637G>A (p.Trp546Ter or W546X) Inherited recessively, in Caucasians the W546X variant may be among one of the most common congenital hypothyroidism mutations; this variant is also reported as associated with a 3.3x higher risk of hypothyroidism.See also OMIM 603372.0010.
TSHR	Rs179247	They also provided preliminary evidence that the disease-associated genotypes of rs179247 (AA) and rs12101255 (TT) show reduced mRNA expression ratios of flTSHR relative to two alternate TSHR mRNA splice variants..
TSHR	Rs1991517	The authors also cited articles claiming that the often-studied TSHR polymorphism of rs1991517 was relevant to bone density and insulin resistance.
TUB	Rs1528133	Two additional TUB SNPs, rs2272382, and rs2272383, mapping to the 3 end of the gene showed similar associations and were in linkage disequilibrium with rs1528133.A follow-up study of 1,680 middle-aged Dutch women found that this allele, rs1528133 (C), was significantly associated with increased weight (+1.88 kg, p=0.022) and body mass index (+0.56 units, p= 0.05).
TUB	Rs2272382	rs2272382, a SNP in the TUB gene, was found in a study of 492 unrelated type-2 diabetes patients to have a significant effect on body mass index and thus obesity (1.3 kg/m (2), p= 0.016).
TXNRD2	Rs737865	May affect non-Hodgkin lymphoma, anxiety-related personality traitsAlso mentioned in these PMIDs.
TYK2	Rs34536443	Aka c.3310C>G (p.Pro1104Ala or P1104A) Inherited recessively, this variant appears to greatly increase (OR 89.3, CI: 14.7 - 1725, p=8.3x10e-8) the risk of developing tuberculosis according to a 2018 study, if the carrier of the minor homozygote genotype is exposed to the tuberculosis mycobacterium.
TYR	Rs61754382	Aka c.1037-1G>A.
TYR	Rs1126809	rs1126809 is not associated with albinism.
TYR	Rs1799989	Among 120 (likely Japanese) first-episode neuroleptic-naive schizophrenics treated with risperidone genotyped for 30 variants in misc.
UNC13D	Rs121434353	Aka c.1208T>C (p.Leu403Pro) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs202020396	Aka c.869C>A (p.Ser290Ter) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs754621494	Aka c.1847A>G (p.Glu616Gly) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs754882266	Aka c.1727+1G>Aconsidered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs796065025	Aka c.216delC (p.Asn73Thrfs) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UNC13D	Rs959968589	Aka c.118-308C>Tconsidered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar.
UROD	Rs74349352	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
UROS	Rs397515348	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
UROS	Rs397515350	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
UROS	Rs397515351	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
USP9Y	Rs2032602	As such, it has been recognized as one of the most reliable indicators of Y haplogroup D. The mutation from T to C indicates membership of the Asian haplogroup D.
VDR	Rs3782905	Vitamin D receptor gene polymorphisms are associated with adiposity phenotypes.
VEGFA	Rs2146323	Individuals with the CC genotype at rs833070 and rs2146323 displayed smaller hippocampal volumes than T-allele and A-allele carriers, respectively.
VEGFA	Rs3025030	Vascular endothelial growth factor gene polymorphisms and rheumatoid arthritis.
VHL	Rs104893829	Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma.
VKORC1	Rs9923231	The main findings related to the treatment of venous thromboembolism (aka VTE; from hypercoagulability) with the blood thinner warfarin for this SNP are that carriers of the rs9923231 (T) allele require significantly reduced doses of warfarin, and are (otherwise) at a higher risk of serious bleeding.
VKORC1	Rs28940305	Influences warfarin dose.
VKORC1	Rs28940303	Influences warfarin dose.
VKORC1	Rs28940304	Influences warfarin dose.
VWF	Rs267607353	rs267607353, also known as c.5347T>G, p.Ser1783Ala is a SNP in the VWF gene on chromosome 12.The rare rs267607353 (G) allele is considered pathogenic for Von Willebrand disease, type 2CB, according to ClinVar and the VWFdb.This SNP is referred to as i5049344 by 23andMe.
VWF	I5049343	rs61750101 Von Willebrand disease.
VWF	Rs1063856	Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
VWF	I5049284	rs61754002 Von Willebrand disease.
VWF	I5049258	rs61749393 Von Willebrand disease.
VWF	I5049159	rs61754011 Von Willebrand disease.
VWF	I3002455	rs1800386 Von Willebrand disease type 1.
WDPCP	Rs11683229	Interleukin 6 (IL6) protein levels.
WFS1	Rs10010131	PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
WFS1	Rs10010131	Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
WFS1	Rs10010131	The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
WFS1	Rs10010131	Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
WFS1	Rs10010131	A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
WFS1	Rs10010131	Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
WFS1	Rs10010131	Underlying genetic models of inheritance in established type 2 diabetes associations.
WFS1	Rs10010131	Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1 gene: the Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study.
WFS1	Rs10010131	Genetic risk profiling for prediction of type 2 diabetes.
WFS1	Rs10012946	The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
WFS1	Rs10010131	Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
WFS1	Rs10010131	Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?.
WFS1	Rs10010131	Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
WFS1	Rs10010131	Genetic architecture of type 2 diabetes: recent progress and clinical implications.
WFS1	Rs10010131	Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.
WFS1	Rs10010131	Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
WFS1	Rs10010131	Association analysis of type 2 diabetes Loci in type 1 diabetes.
WFS1	Rs10010131	Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
WFS1	Rs10010131	Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
WFS1	Rs10010131	Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
WFS1	Rs10010131	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
WFS1	Rs10010131	Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
WFS1	Rs10010131	Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
WFS1	Rs10010131	No association of multiple type 2 diabetes loci with type 1 diabetes.
WFS1	Rs10010131	Common type 2 diabetes risk gene variants associate with gestational diabetes.
WRN	OMIM604611.0004	OMIM604611.0004 is A mutation in the WRN gene which is seen in 50% of Japanese Werner Syndrome cases.
WT1	Rs587776574	Aka c.443delG (p.Gly148Valfs).
WT1	Rs28942089	rs28942089, also known as His377Tyr or H377Y, is a SNP in the WT1 gene on chromosome 11.The mutant allele for this SNP is considered causal for Denys-Drash syndrome, based on several reports.See also OMIM 607102.0012This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
XPNPEP2	Rs3788853	A form of this snp, located upstream of the XPNPEP2 gene on the X chromosome, may cause susceptibility to angioedema|skin swelling when taking medicines called ACE Inhibitors.
XPNPEP2	Rs138365897	The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder.
YARS2	Rs11539445	Frequency data about this allele is not reported so far as we know, indicating it is likely to be extremely rare, and if the 2013 report holds up, is to be considered pathogenic (at least when inherited in two copies or as a compound heterozygote).
ZNF644	Rs587776903	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ZNF644	Rs769065721	This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.