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
RS1659134672 RAB3GAP2 Health Risk Pathogenic —
RS1659153516 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659154730 ABCA4 Health Risk Pathogenic —
RS1659156571 PPOX Health Risk Likely pathogenic Variegate porphyria, Variegate porphyria
RS1659159979 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659160781 ABCA4 Health Risk Pathogenic —
RS1659195030 ABCA4 Health Risk Likely pathogenic —
RS1659196542 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659197976 ABCA4 Health Risk Likely pathogenic —
RS1659200106 ABCA4 Health Risk Pathogenic Stargardt disease, Cone-rod dystrophy 3
RS1659222371 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659228652 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659229440 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1659262013 TNNT2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1659270426 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS1659274238 PPOX Health Risk Pathogenic —
RS1659351072 ABCA4 Health Risk Pathogenic —
RS1659351261 ABCA4 Health Risk Pathogenic Stargardt disease, Severe early-childhood-onset retinal dystrophy
RS1659354254 ABCA4 Health Risk Pathogenic —
RS1659401492 CSDE1 Health Risk Likely pathogenic CSDE1-associated disorder, CSDE1-associated disorder
RS1659426203 ABCA4 Health Risk Pathogenic —
RS1659426325 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1659426620 ABCA4 Health Risk Pathogenic Age related macular degeneration 2, Age related macular degeneration 2
RS1659427600 ABCA4 Health Risk Pathogenic/Likely pathogenic Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS1659429594 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659429852 ABCA4 Health Risk Likely pathogenic —
RS1659430143 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659430629 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS1659440744 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1659452428 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659453002 ABCA4 Health Risk Pathogenic —
RS1659465707 ABCA4 Health Risk Pathogenic ABCA4-related disorder, ABCA4-related disorder
RS1659469884 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659470496 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1659470705 ABCA4 Health Risk Likely pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS1659473887 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS1659474887 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1659515084 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS1659522195 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659523218 LAMC2 Health Risk Pathogenic —
RS1659524475 ABCA4 Health Risk Pathogenic Age related macular degeneration 2, Age related macular degeneration 2
RS1659524799 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1659526187 ABCA4 Health Risk Likely pathogenic —
RS1659531274 LAMC2 Health Risk Pathogenic —
RS1659538637 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS1659538743 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659540498 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS1659543067 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659624849 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1659636825 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1659639440 LAMC2 Health Risk Pathogenic —
RS1659639732 LAMC2 Health Risk Pathogenic —
RS1659640091 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659642467 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1659642763 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1659643864 CRB1 Health Risk Pathogenic Pigmented paravenous retinochoroidal atrophy, Pigmented paravenous retinochoroidal atrophy
RS1659645978 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 12
RS1659651471 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1659662318 FH Health Risk Pathogenic —
RS1659667947 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659669242 LAMC2 Health Risk Pathogenic —
RS1659671020 ABCA4 Health Risk Pathogenic —
RS1659672463 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659672730 ABCA4 Health Risk Pathogenic —
RS1659674437 ABCA4 Health Risk Pathogenic —
RS1659698585 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659719374 ABCA4 Health Risk Pathogenic —
RS1659721337 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659733643 COQ8A Health Risk Pathogenic —
RS1659734330 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1659735679 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1659738028 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1659745968 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659746788 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659782625 LAMC2 Health Risk Pathogenic —
RS1659784333 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1659795266 ABCA4 Health Risk Pathogenic —
RS1659805592 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1659805662 FH Health Risk Pathogenic —
RS1659806431 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659806824 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659806898 FH Health Risk Conflicting classifications of pathogenicity —
RS1659807516 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS1659815819 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1659819062 LAMC2 Health Risk Pathogenic —
RS1659825695 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS1659834817 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1659836821 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS1659840790 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS1659842921 ABCA4 Health Risk Likely pathogenic —
RS1659843366 ABCA4 Health Risk Pathogenic —
RS1659844562 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1659848371 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659852423 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1659853029 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659855240 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659881415 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1659887829 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659888526 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659889270 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
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