SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS150087888 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS150088361 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS150088385 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS150088620 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS150088708 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS150089043 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS150090360 OTOF Health Risk Conflicting classifications of pathogenicity —
RS150092345 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150093305 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150093365 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS150095039 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS150095282 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS150095347 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150095386 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, DCAF17-related disorder
RS150095448 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS150095531 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS150096018 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS150096962 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS150097621 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS150097891 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Retinitis pigmentosa
RS150098077 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150098198 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS150098939 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150100006 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150100958 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS150101848 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS150102345 LRBA Health Risk Conflicting classifications of pathogenicity —
RS150102659 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS150104358 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS150104888 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS150105001 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS150105416 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS150107283 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS150108615 PDE6B Health Risk Pathogenic —
RS150108952 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS150109153 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Inborn genetic diseases
RS150110356 HSPB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS150112560 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS150114658 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS150115958 CABP4 Health Risk Pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS150116445 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS150116588 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Inborn genetic diseases
RS150116809 IRAK3 Health Risk risk factor Asthma-related traits, susceptibility to
RS150117594 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS150118634 GNMT Health Risk Conflicting classifications of pathogenicity —
RS150118849 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS150119795 ASXL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS150121030 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150121265 HAMP Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 2B
RS150121935 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS150123720 NUMA1 Health Risk Conflicting classifications of pathogenicity —
RS150124840 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150125254 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS150125857 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS150126098 FBN1 Health Risk Pathogenic Geleophysic dysplasia, Weill-Marchesani syndrome
RS150126331 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS150126997 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS150128469 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS150129180 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150129370 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS150129663 ACO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150129885 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS150131334 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150131853 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS150132765 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS150132839 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS150134901 ABL1 Health Risk Conflicting classifications of pathogenicity —
RS150135216 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150135933 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150137199 FLG Health Risk Pathogenic —
RS150138016 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Joubert syndrome 5
RS150138364 RAD54L Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Hereditary breast ovarian cancer syndrome
RS150138913 OTOG Health Risk Conflicting classifications of pathogenicity —
RS150139276 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150139510 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150139569 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS150139635 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder
RS150140204 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, EYS-related disorder
RS150140908 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS150141794 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS150142859 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS150143470 CASQ1 Health Risk Conflicting classifications of pathogenicity —
RS150143957 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS150146196 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS150146614 CLP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150146721 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS150147262 COL5A1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Familial thoracic aortic aneurysm and aortic dissection
RS150148125 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS150148567 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS150148922 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS150148936 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Schimke immuno-osseous dysplasia
RS150151795 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS150153886 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS150153987 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS150154006 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS150154235 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS150154265 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS150154438 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS150155252 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS150156178 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
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