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
RS2149390170 CNGB1 Health Risk Pathogenic —
RS2149390330 PPP2CA Health Risk Pathogenic —
RS2149390347 PPP2CA Health Risk Pathogenic —
RS2149390365 PPP2CA Health Risk Pathogenic —
RS2149393215 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2149393749 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149397188 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149397518 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149397818 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149398883 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149398895 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149401562 ADGRV1 Health Risk Pathogenic —
RS2149402360 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS2149404327 RYR2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2149407830 PROM1 Health Risk Likely pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS2149409476 ADGRV1 Health Risk Pathogenic —
RS2149413101 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS2149415255 MYO6 Health Risk Pathogenic —
RS2149416563 COL12A1 Health Risk Likely pathogenic —
RS2149419438 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149419593 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149419668 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149419886 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149424269 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149424713 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149429492 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149433604 ADGRV1 Health Risk Pathogenic —
RS2149436201 ADGRV1 Health Risk Likely pathogenic —
RS2149437479 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149437622 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149437640 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149437719 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149439433 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149441532 ADGRV1 Health Risk Pathogenic —
RS2149449522 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149449539 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS2149449670 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Autosomal dominant nocturnal frontal lobe epilepsy
RS2149449730 DEPDC5 Health Risk Pathogenic —
RS2149457526 IMPG1 Health Risk Pathogenic —
RS2149463584 ADGRV1 Health Risk Pathogenic —
RS2149463861 ADGRV1 Health Risk Pathogenic —
RS2149466212 ADGRV1 Health Risk Pathogenic —
RS2149468435 ADGRV1 Health Risk Pathogenic —
RS2149468550 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2149468567 ADGRV1 Health Risk Pathogenic —
RS2149477595 IMPG1 Health Risk Likely pathogenic —
RS2149478420 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149480454 ADGRV1 Health Risk Pathogenic —
RS2149480893 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149480897 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149480970 ADGRV1 Health Risk Pathogenic —
RS2149481901 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS2149482319 IMPG1 Health Risk Pathogenic Vitelliform macular dystrophy 4, Retinal dystrophy
RS2149482320 IMPG1 Health Risk Pathogenic —
RS2149482408 IMPG1 Health Risk Likely pathogenic —
RS2149487756 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2149489346 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2149489382 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2149492081 MYT1L Health Risk Pathogenic —
RS2149492476 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2149492561 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149493164 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149493395 DMD Health Risk Pathogenic —
RS2149494307 WDFY3 Health Risk Pathogenic Microcephaly 18, primary
RS2149496680 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2149499164 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149501551 FNIP1 Health Risk Pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS2149504053 FNIP1 Health Risk Pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS2149504123 FNIP1 Health Risk Pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS2149508258 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2149508349 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2149508421 LRBA Health Risk Likely pathogenic —
RS2149510283 NIPBL Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2149518317 FNIP1 Health Risk Pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS2149518765 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS2149520942 GRIA1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 67
RS2149534097 FNIP1 Health Risk Pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS2149542191 CAMTA1 Health Risk Likely pathogenic —
RS2149546596 MINAR2 Health Risk Pathogenic Hearing loss, autosomal recessive 120
RS2149549124 NEK1 Health Risk Likely pathogenic —
RS2149558070 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2149562896 PITX1 Health Risk Likely pathogenic Clubfoot, Clubfoot
RS2149568185 ADGRV1 Health Risk Pathogenic —
RS2149584157 ADGRV1 Health Risk Pathogenic —
RS2149585436 PROM1 Health Risk Pathogenic —
RS2149594548 ADGRV1 Health Risk Pathogenic —
RS2149595559 ADGRV1 Health Risk Pathogenic —
RS2149597479 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149602979 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149607039 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149607105 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149614206 APC Health Risk Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS2149614301 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149614389 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149614665 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149614716 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149614987 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149615315 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149615791 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149616393 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
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