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
RS1659891000 USH2A Health Risk Pathogenic —
RS1659891151 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS1659893012 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1659893150 USH2A Health Risk Pathogenic —
RS1659893621 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1659893796 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1659895310 USH2A Health Risk Pathogenic —
RS1659895952 RC3H1 Health Risk Pathogenic Hemophagocytic lymphohistiocytosis, familial
RS1659897581 TGFB2 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1659900155 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1659900228 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Retinal dystrophy
RS1659902823 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1659914486 ABCA4 Health Risk Pathogenic —
RS1659914654 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1659914711 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1659914762 ABCA4 Health Risk Pathogenic —
RS1659914923 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1659921742 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659922131 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1659924638 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659926175 COQ8A Health Risk Likely pathogenic See cases, See cases
RS1659930803 LAMC2 Health Risk Pathogenic —
RS1659932688 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Familial restrictive cardiomyopathy
RS1659939983 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659944113 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659945481 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS1659953619 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659953887 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659954003 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659954132 ACTA1 Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1659954135 ABCA4 Health Risk Pathogenic —
RS1659954399 ACTA1 Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Actin accumulation myopathy
RS1659954489 ABCA4 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1659961434 ACTA1 Health Risk Likely pathogenic Neuromuscular disease, Neuromuscular disease
RS1659962016 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659962077 ACTA1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS1659965467 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1659973563 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659974377 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659975666 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659975747 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659975786 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, ACTA1-related myopathies
RS1659978452 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659978909 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659979809 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659980066 ACTA1 Health Risk Likely pathogenic —
RS1659980721 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659984269 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659985552 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659986226 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1659986880 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS1659988181 FH Health Risk Pathogenic —
RS1659988368 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1659989676 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1659990191 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1659997092 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659997368 ABCA4 Health Risk Pathogenic —
RS1659997422 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1659998657 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659999374 FH Health Risk Pathogenic —
RS1659999781 FH Health Risk Pathogenic —
RS1660001313 DAP3 Health Risk Likely pathogenic See cases, DAP3-related disorder
RS1660001380 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1660001741 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1660010402 TGFB2 Health Risk Likely pathogenic Familial aortopathy, Familial aortopathy
RS1660016633 KIF14 Health Risk Likely pathogenic Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
RS1660025629 SLC35A3 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1660027548 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1660027790 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1660029324 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1660038687 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1660058817 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1660064320 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1660080565 ABCA4 Health Risk Pathogenic —
RS1660092575 ABCA4 Health Risk Pathogenic —
RS1660094798 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660096953 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1660098180 FH Health Risk Pathogenic —
RS1660099266 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660099527 FH Health Risk Likely pathogenic —
RS1660100641 FH Health Risk Pathogenic —
RS1660103724 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660108555 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1660112720 HS2ST1 Health Risk Pathogenic Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
RS1660137001 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1660139846 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1660143675 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1660143834 FH Health Risk Pathogenic —
RS1660148115 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1660166597 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1660166963 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1660168484 ABCA4 Health Risk Likely pathogenic —
RS1660171997 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1660173338 LAMC2 Health Risk Pathogenic/Likely pathogenic Abnormality of the skin, Epidermolysis bullosa
RS1660186858 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1660213551 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1660216799 ABCA4 Health Risk Pathogenic —
RS1660217584 ABCA4 Health Risk Pathogenic —
RS1660218357 ABCA4 Health Risk Pathogenic —
RS1660218703 ABCA4 Health Risk Pathogenic —
« Prev 1 ... 1168 1169 1170 1171 1172 1173 1174 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →