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
RS1645575465 CDC42 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, CDC42-related disorder
RS1645586485 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1645607563 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1645656856 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1645663483 CDC42 Health Risk Likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
RS1645686564 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1645691337 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1645806893 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1645822647 RPE65 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1645823028 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645823354 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645824187 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 2
RS1645824260 RPE65 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1645826120 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1645826941 RPE65 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, RPE65-related recessive retinopathy
RS1645848679 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS1645855563 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1645867120 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS1645875407 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645879495 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645879569 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Autosomal recessive retinitis pigmentosa
RS1645880232 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645880293 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645882103 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645882447 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645883131 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1645885777 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645885900 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645896934 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645898265 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645898413 RPE65 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, RPE65-related recessive retinopathy
RS1645898563 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645927790 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1645928251 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645928294 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645929674 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1645945363 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis, Retinitis pigmentosa 20
RS1645945392 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinal dystrophy
RS1645945582 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645945599 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1645945643 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1645945978 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1645959896 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1646006817 DOCK7 Health Risk Likely pathogenic —
RS1646008860 RERE Health Risk Likely pathogenic —
RS1646080085 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1646236200 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1646253231 NFIA Health Risk Pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1646254633 NFIA Health Risk Pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1646255018 NFIA Health Risk Likely pathogenic —
RS1646257371 NFIA Health Risk Pathogenic/Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1646260006 NFIA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1646342863 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1646379664 DOCK7 Health Risk Pathogenic —
RS1646420881 GNB1 Health Risk Conflicting classifications of pathogenicity —
RS1646448461 GNB1 Health Risk Likely pathogenic —
RS1646670079 GNB1 Health Risk Pathogenic See cases, See cases
RS1646670170 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, See cases
RS1646670990 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS1646696544 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS1646697327 GNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 42
RS1646718218 YRDC Health Risk Pathogenic Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
RS1646752498 YRDC Health Risk Pathogenic Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
RS1646757490 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1646774558 DAB1 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1646822375 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1646830386 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1646883385 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS1646884829 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS1646884931 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Congenital primary aphakia
RS1646962392 DHCR24 Health Risk Likely pathogenic Desmosterolosis, Desmosterolosis
RS1647004958 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647009785 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647010155 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647014461 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647014537 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647016174 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647019292 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647019645 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647019692 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647020172 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1647020318 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647021342 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647022933 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647023010 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647053042 TOE1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1647059319 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1647059649 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1647060064 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647073222 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647074009 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647077635 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1647090485 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647100516 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1647138135 ORC1 Health Risk Likely pathogenic —
RS1647148516 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1647165465 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647169738 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647169888 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647180436 KCNQ4 Health Risk Pathogenic —
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