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
RS2133411551 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133411704 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS2133411859 LIPA Health Risk Likely pathogenic Wolman disease, Wolman disease
RS2133412083 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS2133412405 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133412472 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133413584 LIPA Health Risk Pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS2133413622 ABCC8 Health Risk Pathogenic —
RS2133424815 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS2133427073 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS2133427390 RINT1 Health Risk Likely pathogenic —
RS2133429402 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS2133429462 LIPA Health Risk Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS2133429569 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS2133430623 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133433678 GSN Health Risk Pathogenic Finnish type amyloidosis, Finnish type amyloidosis
RS2133436727 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS2133439017 ABCC8 Health Risk Pathogenic —
RS2133440581 ECHS1 Health Risk Likely pathogenic —
RS2133441975 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2133443188 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2133443370 ECHS1 Health Risk Likely pathogenic ECHS1-related disorder, ECHS1-related disorder
RS2133449474 HTRA1 Health Risk Pathogenic/Likely pathogenic CARASIL syndrome, Cerebral arteriopathy
RS2133450404 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2133450854 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2133453300 FKTN Health Risk Likely pathogenic —
RS2133453431 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133453577 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133454296 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133456150 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2133457292 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133458164 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133460799 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133460957 ABCC8 Health Risk Pathogenic —
RS2133463883 RINT1 Health Risk Pathogenic —
RS2133468001 LIPA Health Risk Pathogenic/Likely pathogenic —
RS2133468040 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS2133472134 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133473949 WHRN Health Risk Pathogenic —
RS2133473953 ABCC8 Health Risk Pathogenic —
RS2133477788 RINT1 Health Risk Pathogenic —
RS2133479924 RINT1 Health Risk Pathogenic —
RS2133480858 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS2133482258 WHRN Health Risk Pathogenic —
RS2133484638 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS2133487890 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2133499883 EPS8L2 Health Risk Pathogenic Hearing loss, autosomal recessive 106
RS2133502090 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133503091 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133503921 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133504109 FAS Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133508524 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS2133510569 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133510708 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133510772 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133511280 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS2133511511 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133515017 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133516329 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS2133516584 CSRP3 Health Risk Likely pathogenic —
RS2133527951 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133529359 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133537931 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2133539303 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Diabetes mellitus
RS2133539468 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133545024 CD59 Health Risk Pathogenic Primary CD59 deficiency, Primary CD59 deficiency
RS2133545231 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133545475 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Ovarian cancer
RS2133547404 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133548955 ABCC8 Health Risk Pathogenic —
RS2133554613 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133559667 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133560140 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133560305 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133560315 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS2133560394 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133560406 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2133577022 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133577213 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133577966 FREM1 Health Risk Likely pathogenic —
RS2133582387 IGF2 Health Risk Likely pathogenic —
RS2133585000 IGF2;INS-IGF2 Health Risk Likely pathogenic —
RS2133587981 HBB Health Risk Likely pathogenic beta Thalassemia, beta Thalassemia
RS2133588176 HBB Health Risk Likely pathogenic beta Thalassemia, Beta-thalassemia HBB/LCRB
RS2133588679 HBB Health Risk Likely pathogenic Hemoglobinopathy, Hemoglobinopathy
RS2133588734 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2133589044 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2133589910 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133591810 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133591953 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133592454 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133592586 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133593245 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133593509 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133593569 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133593716 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133594187 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133594398 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2133594431 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133595741 ABCC8 Health Risk Pathogenic —
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