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
RS2515675063 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515675708 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515679217 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515679716 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2515679836 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515680075 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515680101 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2515681435 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515685116 NFATC2 Health Risk Pathogenic Joint contractures, osteochondromas
RS2515692811 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2515695390 ITCH Health Risk Likely pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515699364 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2515699379 HNF4A Health Risk Likely pathogenic —
RS2515708304 CD40 Health Risk Pathogenic —
RS2515708347 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS2515708636 SALL4 Health Risk Likely pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515710056 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS2515710157 DPM1 Health Risk Likely pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS2515713794 HNF4A Health Risk Pathogenic —
RS2515713821 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515714538 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2515714649 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515714702 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515714748 SALL4 Health Risk Likely pathogenic SALL4-related disorder, SALL4-related disorder
RS2515714792 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS2515714934 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515714969 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515715730 SALL4 Health Risk Pathogenic —
RS2515716088 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515716591 SALL4 Health Risk Likely pathogenic SALL4-related disorder, SALL4-related disorder
RS2515716795 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, SALL4-related disorder
RS2515718577 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2515725 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS2515728402 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2515729824 CD40 Health Risk Likely pathogenic —
RS2515738438 NLRP7 Health Risk Likely pathogenic NLRP7-related disorder, NLRP7-related disorder
RS2515763229 CACNA1F Health Risk Pathogenic —
RS2515763244 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515767748 ABHD12 Health Risk Pathogenic —
RS2515767848 ABHD12 Health Risk Likely pathogenic PHARC syndrome, PHARC syndrome
RS2515770212 ABHD12 Health Risk Likely pathogenic —
RS2515791028 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS2515793320 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS2515795221 NCR1;NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS2515805050 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS2515817309 ABHD12 Health Risk Pathogenic —
RS2515818511 TNNC2 Health Risk Pathogenic Congenital myopathy 15, Congenital myopathy 15
RS2515819804 ITCH Health Risk Likely pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515866863 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515907041 LDLR Health Risk Pathogenic —
RS2515907266 LDLR Health Risk Likely pathogenic Homozygous familial hypercholesterolemia, Homozygous familial hypercholesterolemia
RS2515907293 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515915787 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS2515915876 TUBB1 Health Risk Likely pathogenic Macrothrombocytopenia, isolated
RS2515933527 CAMK2D Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2515937569 ODAD1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515940072 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515944973 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515945576 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515945816 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515950018 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515950149 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515955334 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515955858 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515956113 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515956176 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515964841 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515965214 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515965305 LDLR Health Risk Pathogenic —
RS2515965640 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515966234 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515966675 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515966911 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2515967726 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515968095 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515968304 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515968602 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515968704 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515968718 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515968810 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515968980 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515969112 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515973844 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515977526 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515977793 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515978372 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515979618 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, IIa 26
RS2515980140 TAF4 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2515981247 LAMA5 Health Risk Pathogenic Nephrotic syndrome, IIa 26
RS2515981533 TAF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2515981638 TAF4 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2515985503 TAF4 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2515989112 TAF4 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2515989975 LDLR Health Risk Likely pathogenic LDLR-related disorder, LDLR-related disorder
RS2515990431 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2515990772 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515990989 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2515992645 ABHD12 Health Risk Pathogenic —
RS2515995236 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515995812 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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