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
RS1644755212 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1644755604 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphataemia or rickets, Hypophosphataemia or rickets
RS1644756699 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1644757200 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1644757548 ALPL Health Risk Conflicting classifications of pathogenicity —
RS1644777520 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1644799870 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644814606 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS1644818073 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644819425 UROD Health Risk Pathogenic —
RS1644826882 UROD Health Risk Pathogenic —
RS1644831295 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1644833186 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1644835894 UROD Health Risk Pathogenic —
RS1644838064 TMEM53 Health Risk Pathogenic TMEM53-related craniotubular dysplasia, Craniotubular dysplasia
RS1644839551 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644853541 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644859056 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644859651 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS1644868869 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644886403 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1644888393 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644889088 TMEM53 Health Risk Pathogenic/Likely pathogenic TMEM53-related craniotubular dysplasia, Craniotubular dysplasia
RS1644891144 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644903899 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644908718 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644909838 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1644913465 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644918844 CLCN6 Health Risk Conflicting classifications of pathogenicity 12 conditions, Neurodegeneration
RS1644920219 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644929836 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1644931388 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644932281 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1644937659 C8B Health Risk Likely pathogenic —
RS1644949519 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1644978399 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644995145 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644997083 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645023044 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1645025596 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645027632 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645038575 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1645047324 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645057147 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1645065317 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1645090090 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645092023 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645098684 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645128943 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645132367 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1645145092 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645149413 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645153275 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1645156886 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1645159594 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1645164432 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1645188053 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645192561 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1645249331 C8B Health Risk Pathogenic —
RS1645259682 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast carcinoma
RS1645260006 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645261795 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645264815 AGO1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental disorder with language delay and behavioral abnormalities
RS1645267570 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645271555 AGO1 Health Risk Pathogenic AGO1-associated disorder, Intellectual disability
RS1645321968 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1645324873 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645327989 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645350030 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645358577 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1645359135 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS1645359406 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645359691 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645363196 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645370714 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1645371113 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645377017 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645377413 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645377813 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645382242 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645392057 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1645411052 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1645413342 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645414208 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645416037 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645416288 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645419457 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645420669 CPT2 Health Risk Pathogenic/Likely pathogenic Encephalopathy, acute
RS1645421667 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645424505 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645426286 CPT2 Health Risk Likely pathogenic —
RS1645442171 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645443101 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1645443275 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1645445189 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1645561773 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645571595 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1645573077 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645575152 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1645575312 CDC42 Health Risk Likely pathogenic —
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