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
RS1660225013 PPOX Health Risk Likely pathogenic —
RS1660242061 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1660243497 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660258358 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1660297324 DNAJB4 Health Risk Pathogenic Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
RS1660298900 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1660304704 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1660305188 DPYD Health Risk Pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1660324018 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660348024 ABCA4 Health Risk Pathogenic —
RS1660349633 ABCA4 Health Risk Pathogenic —
RS1660349948 BCL10 Health Risk Pathogenic Immunodeficiency 37, Immunodeficiency 37
RS1660350150 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Stargardt disease
RS1660352437 CACNA1S Health Risk Pathogenic Centronuclear myopathy, Congenital myopathy 18
RS1660360744 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660360960 ABCA4 Health Risk Pathogenic —
RS1660366419 ABCA4 Health Risk Pathogenic —
RS1660368021 ABCA4 Health Risk Pathogenic —
RS1660402465 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1660404789 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1660447204 ABCA4 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1660478193 NUP133 Health Risk Likely pathogenic Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8
RS1660480045 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1660481072 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1660503192 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1660507732 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1660515780 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1660516364 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1660517312 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1660517678 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1660519681 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1660527423 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS1660527478 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660527879 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660531525 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660531880 ABCA4 Health Risk Pathogenic —
RS1660531924 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS1660532299 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1660573507 ABCA4 Health Risk Pathogenic —
RS1660612706 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia
RS1660618055 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1660619132 ABCA4 Health Risk Pathogenic —
RS1660619835 ABCA4 Health Risk Pathogenic —
RS1660620340 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1660620409 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660626613 ABCA4 Health Risk Pathogenic Age related macular degeneration 2, Age related macular degeneration 2
RS1660627756 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1660633733 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1660658865 RAD54L Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1660694623 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1660700107 ABCA4 Health Risk Pathogenic —
RS1660700260 ABCA4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS1660701838 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1660702072 ABCA4 Health Risk Likely pathogenic —
RS1660702616 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1660729290 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS1660735523 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1660761326 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1660762877 ABCA4 Health Risk Pathogenic Generalized choriocapillaris dystrophy, Generalized choriocapillaris dystrophy
RS1660842061 ABCA4 Health Risk Likely pathogenic —
RS1660843703 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660844241 ABCA4 Health Risk Pathogenic —
RS1660844326 ABCA4 Health Risk Pathogenic Isolated macular dystrophy, Isolated macular dystrophy
RS1660845802 ABCA4 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1660884486 USH2A Health Risk Pathogenic —
RS1660922779 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1660926805 USH2A Health Risk Pathogenic —
RS1660936779 ABCA4 Health Risk Pathogenic Isolated macular dystrophy, Isolated macular dystrophy
RS1660937747 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1660938577 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS1660944269 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS1660945616 ABCA4 Health Risk Pathogenic —
RS1660946056 ABCA4 Health Risk Likely pathogenic Generalized choriocapillaris dystrophy, Generalized choriocapillaris dystrophy
RS1660964820 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1660983058 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1660985994 ABCA4 Health Risk Likely pathogenic —
RS1660993544 ABCA4 Health Risk Pathogenic —
RS1660993598 ABCA4 Health Risk Likely pathogenic —
RS1660994402 ABCA4 Health Risk Likely pathogenic —
RS1660996754 ABCA4 Health Risk Pathogenic —
RS1661065356 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1661088751 CACNA1S Health Risk Likely pathogenic —
RS1661093123 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1661097693 ABCA4 Health Risk Pathogenic —
RS1661098509 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Severe early-childhood-onset retinal dystrophy
RS1661099730 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1661117141 MTR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1661140054 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1661141590 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1661162346 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1661163134 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1661165160 ABCA4 Health Risk Pathogenic —
RS1661166046 ABCA4 Health Risk Pathogenic —
RS1661175744 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1661179785 ABCA4 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Severe early-childhood-onset retinal dystrophy
RS1661181033 ABCA4 Health Risk Pathogenic —
RS1661206662 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS1661213734 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1661230355 PPOX Health Risk Likely pathogenic —
RS1661257691 RPS7 Health Risk Likely pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
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