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
RS1598381121 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1598381169 STAT3 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, STAT3 gain of function
RS1598381778 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1598383011 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1598393453 STAT3 Health Risk Likely pathogenic —
RS1598394988 TMEM94 Health Risk Pathogenic —
RS1598399795 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1598405334 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, SCN4A-related disorder
RS1598406623 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1598406651 STAT3 Health Risk Likely pathogenic —
RS1598406692 SCN4A Health Risk Pathogenic Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16
RS1598408073 MAPT Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1598408336 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1598411105 RPGRIP1L Health Risk Likely pathogenic —
RS1598413522 PPM1D Health Risk Likely pathogenic —
RS1598413570 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1598415635 STAT3 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, STAT3 gain of function
RS1598416221 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1598423756 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1598426626 SMCHD1 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS1598429555 GNAL Health Risk Likely pathogenic Limb dystonia, Dysarthria
RS1598431052 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1598432041 TLK2 Health Risk Likely pathogenic —
RS1598441446 KANSL1 Health Risk Pathogenic —
RS1598448639 RAD51C Health Risk Likely pathogenic —
RS1598448876 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1598448896 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1598449381 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598449660 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1598455555 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598455598 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598456075 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598456274 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598459949 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598460116 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1598460178 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598460593 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598460710 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598460753 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598460983 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598467175 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1598468564 BPTF Health Risk Pathogenic —
RS1598473225 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598473310 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598477502 TSEN54 Health Risk Pathogenic —
RS1598479779 PIEZO2 Health Risk Pathogenic Marden-Walker syndrome, Arthrogryposis
RS1598480419 TSEN54 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 2A
RS1598482405 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1598484479 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598484851 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598504016 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598510954 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1598515363 FDXR Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 9b, Multiple mitochondrial dysfunctions syndrome 9b
RS1598518754 FDXR Health Risk Likely pathogenic Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS1598522408 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS1598525781 DNAH17 Health Risk Pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS1598534951 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1598535096 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1598540478 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1598548256 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS1598548614 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, ACTG1-related disorder
RS1598551290 ACTG1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS1598560094 PSMD12 Health Risk Pathogenic —
RS1598563750 PSMD12 Health Risk Pathogenic —
RS1598572298 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1598574154 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS1598575231 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1598577666 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1598578030 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1598580364 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1598580407 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1598581682 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1598581919 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1598582021 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1598584825 USH1G Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1598585402 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1598588782 CACNA1G Health Risk Likely pathogenic —
RS1598592533 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1598592604 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1598595659 DNAH17 Health Risk Pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS1598598205 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1598599641 BPTF Health Risk Pathogenic —
RS1598604607 EIF4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1598620094 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1598632432 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1598639584 CARD14 Health Risk Pathogenic Psoriasis 2, Pityriasis rubra pilaris
RS1598639617 CARD14 Health Risk Pathogenic Papulosquamous eruptions, Pityriasis rubra pilaris
RS1598639659 CARD14 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS1598639974 CARD14 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS1598676325 TLK2 Health Risk Pathogenic —
RS1598681680 BPTF Health Risk Pathogenic —
RS1598690937 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS1598690979 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1598699465 DSG1 Health Risk Pathogenic —
RS1598700249 ITGB3 Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1598702827 ITGB3 Health Risk Conflicting classifications of pathogenicity Abnormal platelet aggregation, Thrombocytopenia
RS1598717056 PDE6G Health Risk Pathogenic Retinitis pigmentosa 57, Retinitis pigmentosa
RS1598734446 GATA6 Health Risk Pathogenic —
RS1598736884 SGSH Health Risk Likely pathogenic —
RS1598737972 GATA6 Health Risk Pathogenic Persistent truncus arteriosus, Atrioventricular septal defect 5
« Prev 1 ... 1131 1132 1133 1134 1135 1136 1137 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →