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
RS1661324893 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1661544157 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1661571229 KCNF1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1661573417 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1661575232 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS1661577361 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS1661578005 ABCA4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS1661578607 ABCA4 Health Risk Pathogenic —
RS1661579382 USH2A Health Risk Pathogenic —
RS1661623028 ABCA4 Health Risk Pathogenic —
RS1661625047 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1661659605 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1661660701 ABCA4 Health Risk Pathogenic —
RS1661660762 USH2A Health Risk Pathogenic —
RS1661662091 USH2A Health Risk Pathogenic —
RS1661663692 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1661666701 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1661669685 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1661673887 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1661687852 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1661692833 ABCA4 Health Risk Pathogenic —
RS1661730953 NBAS Health Risk Pathogenic —
RS1661749935 ABCA4 Health Risk Pathogenic —
RS1661795778 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1661796496 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1661797008 DBT Health Risk Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS1661797765 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1661818720 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, USH2A-related disorder
RS1661835277 COL11A1 Health Risk Pathogenic —
RS1661842867 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1661886822 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1661946523 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1662014050 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1662051174 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1662067653 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1662088383 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1662191792 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1662208035 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Stargardt disease 3
RS1662208443 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS1662213462 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1662214905 ABCA4 Health Risk Pathogenic —
RS1662215591 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1662216783 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS1662225276 USH2A Health Risk Likely pathogenic —
RS1662226257 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1662239185 USH2A Health Risk Likely pathogenic —
RS1662293206 ASH1L Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1662320308 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS1662327418 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1662343008 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1662434135 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1662479663 TNNI3K Health Risk Likely pathogenic Atrial conduction disease, Atrial conduction disease
RS1662504014 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1662504407 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1662504456 ABCA4 Health Risk Likely pathogenic —
RS1662506957 ABCA4 Health Risk Pathogenic —
RS1662507319 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1662508844 ABCA4 Health Risk Pathogenic —
RS1662568698 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1662599697 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS1662601425 ABCA4 Health Risk Pathogenic Stargardt disease 3, Retinitis pigmentosa 19
RS1662641163 ADCY10 Health Risk Pathogenic —
RS1662641467 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1662700407 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1662701151 NLRP3 Health Risk Pathogenic Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS1662713003 NLRP3 Health Risk Likely pathogenic Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS1662731815 NLRP3 Health Risk Pathogenic Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS1662763051 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS1662771528 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1662772955 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1662774674 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1662775446 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1662837763 MYCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1662848905 MYCN Health Risk Likely pathogenic Inborn genetic diseases, Feingold syndrome type 1
RS1662852731 MYCN Health Risk Pathogenic —
RS1662856733 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1662880550 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, USH2A-related disorder
RS1662880750 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1662880811 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS1662881745 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS1662934446 ABCA4 Health Risk Likely pathogenic —
RS1662934961 ABCA4 Health Risk Likely pathogenic —
RS1662935816 ABCA4 Health Risk Pathogenic Generalized choriocapillaris dystrophy, Generalized choriocapillaris dystrophy
RS1662938116 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS1662975878 KCNS3 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1662986310 COG2 Health Risk Likely pathogenic Congenital disorder of glycosylation, type IIq
RS1663041820 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1663042244 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1663117641 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663118269 APOB Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1663126920 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663129046 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663137907 ADCY10 Health Risk Pathogenic —
RS1663149096 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663150812 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663151257 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663184094 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663188420 CYFIP2 Health Risk Conflicting classifications of pathogenicity CYFIP2-related neurodevelopmental disorders, CYFIP2-related neurodevelopmental disorders
RS1663196217 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1663226917 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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