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
RS1553123869 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553123871 ACADM Health Risk Pathogenic —
RS1553123872 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553124014 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553124088 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553124158 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553124735 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553124803 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553124805 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553124893 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553124948 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125075 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125100 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553125211 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553125243 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553125264 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553125609 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553125622 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125677 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553125687 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125762 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125766 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553125813 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553125914 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Neoplasm of stomach
RS1553126007 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553126284 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553126299 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553126320 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553126383 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553126467 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553126588 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553126738 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553126848 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553126942 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127030 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127049 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553127141 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS1553127172 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553127216 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553127378 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553127382 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1553127397 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127514 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127574 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127659 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127779 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127798 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127825 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553127879 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553128005 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553128102 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1553128179 CLCNKB Health Risk Conflicting classifications of pathogenicity —
RS1553128241 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1553128253 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553128391 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553128642 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553128663 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553128712 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553128813 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553128929 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553128962 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129062 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553129078 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129230 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129293 KDM1A Health Risk Likely pathogenic —
RS1553129349 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553129521 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129535 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129638 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1553129652 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553129676 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129798 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553129862 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553129892 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553130042 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130086 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130091 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130148 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130185 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130266 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130284 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553130904 KDM1A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1553131429 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553131489 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1553131499 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553131955 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1553132209 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1553132520 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1553133042 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1553134578 PLOD1 Health Risk Pathogenic —
RS1553134935 CTRC Health Risk Likely pathogenic Chronic pancreatitis, Chronic pancreatitis
RS1553135406 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1553135930 PCSK9 Health Risk Pathogenic Hypercholesterolemia, familial
RS1553135971 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1553136318 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1553136984 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1553137486 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1553137543 PCSK9 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1553137557 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1553137693 PCSK9 Health Risk Pathogenic Hypercholesterolemia, familial
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