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
RS1569480047 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1569480082 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1569480333 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1569481100 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1569481124 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome
RS1569481966 F9 Health Risk Likely pathogenic —
RS1569481975 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1569482153 MED12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked MED12-related disorder
RS1569482431 MED12 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Nonspecific Intellectual Disability
RS1569484042 MT-CO1 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484091 MT-CO1 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484096 MT-CO1 Health Risk Likely pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484098 MT-CO1 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484100 MT-CO1 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484104 MT-CO1 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484107 MT-CO1 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484108 MT-CO1 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484114 MT-CO1 Health Risk Likely pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484115 MT-CO1 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484116 MT-CO1 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484120 MT-CO1 Health Risk Likely pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484122 MT-CO1 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484123 MT-CO1 Health Risk Likely pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484124 MT-CO1 Health Risk Pathogenic Tetralogy of Fallot, Abnormal aortic valve physiology
RS1569484125 MT-CO1 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484126 MT-CO1 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484164 MT-CO2 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484165 MT-CO2 Health Risk Likely pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484166 MT-CO2 Health Risk Likely pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484169 MT-CO2 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484177 MT-CO2 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484178 MT-CO2 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484208 MT-ATP8 Health Risk Pathogenic Bicuspid aortic valve, Bicuspid aortic valve
RS1569484209 MT-ATP8 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484221 MT-ATP8 Health Risk Pathogenic Abnormal mitral valve physiology, Abnormal mitral valve physiology
RS1569484234 MT-ATP6 Health Risk Pathogenic Bicuspid aortic valve, Bicuspid aortic valve
RS1569484288 MT-CO3 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484292 MT-CO3 Health Risk Likely pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484299 MT-CO3 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569484300 MT-CO3 Health Risk Pathogenic Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484301 MT-CO3 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1569485503 NLGN3 Health Risk Pathogenic Intellectual disability, Autistic behavior
RS1569488381 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569488426 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569488429 COL4A5 Health Risk Pathogenic —
RS1569488434 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569488437 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Nonpapillary renal cell carcinoma
RS1569488841 COL4A5 Health Risk Likely pathogenic —
RS1569488946 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1569489328 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1569489348 COL4A5 Health Risk Likely pathogenic —
RS1569489353 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569489799 COL4A5 Health Risk Pathogenic —
RS1569489863 COL4A5 Health Risk Pathogenic —
RS1569490148 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1569490379 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569490387 COL4A5 Health Risk Likely pathogenic —
RS1569490592 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569490635 COL4A5 Health Risk Pathogenic —
RS1569490913 COL4A5 Health Risk Pathogenic —
RS1569490932 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569491068 COL4A5 Health Risk Pathogenic —
RS1569491075 COL4A5 Health Risk Likely pathogenic —
RS1569491107 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569491399 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569491718 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569491753 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1569491884 GPRASP2 Health Risk Pathogenic X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
RS1569492122 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569492147 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569492161 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS1569492951 COL4A5 Health Risk Likely pathogenic Alport syndrome, Hematuria
RS1569493662 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569493663 SHOX Health Risk Pathogenic/Likely pathogenic Langer mesomelic dysplasia syndrome, Langer mesomelic dysplasia syndrome
RS1569493670 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569493679 COL4A5 Health Risk Likely pathogenic —
RS1569493877 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS1569494025 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS1569494034 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS1569494061 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494262 COL4A5 Health Risk Pathogenic —
RS1569494267 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494281 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494304 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494322 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494378 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1569494386 COL4A5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569494393 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569494903 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1569495038 COL4A5 Health Risk Pathogenic —
RS1569495049 COL4A5 Health Risk Pathogenic —
RS1569495067 COL4A5 Health Risk Pathogenic —
RS1569495224 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS1569495819 COL4A5 Health Risk Pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1569497030 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569497266 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS1569497690 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Rare genetic deafness
RS1569497776 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569498597 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS1569498623 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
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