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
RS2064904675 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2064905664 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2064908936 UNC13D Health Risk Pathogenic —
RS2064909876 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS2064936438 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064936948 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064937140 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064942107 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064956872 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064957038 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064960126 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064960622 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS2064961372 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064962405 UNC13D Health Risk Conflicting classifications of pathogenicity See cases, Familial hemophagocytic lymphohistiocytosis 3
RS2064966689 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS2064966794 AVPR2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS2064967091 AVPR2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS2064967549 AVPR2 Health Risk Pathogenic —
RS2064970978 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064977538 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS2065026848 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065026878 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065027151 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065029325 WDR45 Health Risk Pathogenic —
RS2065029414 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065030680 WDR45 Health Risk Pathogenic —
RS2065030871 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Intellectual disability
RS2065031075 WDR45 Health Risk Pathogenic —
RS2065031709 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2065032149 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065032542 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065032591 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065033946 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065034268 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065038117 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2065038463 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065040342 WDR45 Health Risk Pathogenic —
RS2065041493 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2065045000 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2065045234 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045269 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045334 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045650 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045729 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS2065045769 WDR45 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2065046104 WDR45 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2065046125 WDR45 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2065048388 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065048490 WDR45 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodegeneration with brain iron accumulation 5
RS2065055824 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065096453 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2065096678 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065102210 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065102310 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS2065102917 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065103002 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065105940 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065117719 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065117726 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065117736 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Inborn genetic diseases
RS2065118104 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065118116 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Myocardial infarction
RS2065126287 PHF8 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2065129084 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065129571 CASK Health Risk Likely pathogenic —
RS2065129964 CASK Health Risk Pathogenic —
RS2065130922 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065136111 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS2065139570 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS2065146526 COL4A3 Health Risk Pathogenic —
RS2065150560 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2065153902 COL4A3 Health Risk Likely pathogenic —
RS2065154326 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2065157059 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065157102 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065158302 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065158556 NAA10 Health Risk Pathogenic Ogden syndrome, Ogden syndrome
RS2065162324 NAA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ogden syndrome
RS2065163860 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2065169457 NAA10 Health Risk Conflicting classifications of pathogenicity Ogden syndrome, Nonpapillary renal cell carcinoma
RS2065169655 NAA10 Health Risk Conflicting classifications of pathogenicity Ogden syndrome, NAA10-related disorder
RS2065171820 NAA10 Health Risk Pathogenic Microphthalmia, syndromic 1
RS2065175772 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2065185202 NAA10 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability, Intellectual disability
RS2065190797 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS2065199547 RORA Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2065252717 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2065263811 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS2065298662 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS2065317387 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065325898 ADA Health Risk Pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency
RS2065325961 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065327187 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065327638 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065327852 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065328619 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065329555 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065331078 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2065331681 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2065341675 ACBD5 Health Risk Pathogenic —
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