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
RS2519213433 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2519213435 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519213488 USP9X Health Risk Pathogenic —
RS2519213497 USP9X Health Risk Likely pathogenic —
RS2519214389 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2519215533 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519215974 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2519219222 USP9X Health Risk Pathogenic —
RS2519219632 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2519220921 ZFX Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2519224295 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2519224395 USP9X Health Risk Pathogenic —
RS2519225700 USP9X Health Risk Conflicting classifications of pathogenicity —
RS2519234356 CASK Health Risk Likely pathogenic Intellectual disability, CASK-related
RS2519234559 CASK Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2519234687 CASK Health Risk Likely pathogenic FG syndrome 4, FG syndrome 4
RS2519234724 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2519235915 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519248264 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS2519249455 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519249682 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519266617 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2519268573 GK Health Risk Pathogenic —
RS2519269133 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2519269328 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2519275435 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2519275907 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2519277338 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519277606 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519277671 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519278549 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519278652 WAS Health Risk Pathogenic/Likely pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS2519279079 GK Health Risk Likely pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS2519279463 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Nonpapillary renal cell carcinoma
RS2519280109 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519280132 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519280181 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519280195 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519280651 WAS Health Risk Pathogenic Thrombocytopenia 1, X-linked severe congenital neutropenia
RS2519280746 WAS Health Risk Likely pathogenic Thrombocytopenia 1, X-linked severe congenital neutropenia
RS2519280825 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519280832 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519280880 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519281015 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519281091 WAS Health Risk Likely pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519281309 WAS Health Risk Pathogenic Thrombocytopenia 1, Thrombocytopenia 1
RS2519281331 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519281397 WAS Health Risk Pathogenic Thrombocytopenia 1, Thrombocytopenia 1
RS2519282194 BCOR Health Risk Likely pathogenic —
RS2519283164 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519283290 WAS Health Risk Pathogenic/Likely pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2519283379 WAS Health Risk Pathogenic Thrombocytopenia 1, X-linked severe congenital neutropenia
RS2519283517 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2519285150 WAS Health Risk Pathogenic —
RS2519285821 WAS Health Risk Likely pathogenic X-linked severe congenital neutropenia, X-linked severe congenital neutropenia
RS2519286526 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519286534 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519286594 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519286791 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519286945 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519286970 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519287245 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519287822 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2519287897 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2519288079 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2519288131 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2519289013 WAS Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS2519289166 WAS Health Risk Pathogenic WAS-related disorder, X-linked severe congenital neutropenia
RS2519289569 BCOR Health Risk Likely pathogenic BCOR-related disorder, BCOR-related disorder
RS2519291641 WAS Health Risk Likely pathogenic —
RS2519298510 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519299753 CNKSR2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2519302803 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519305610 MAGED2 Health Risk Conflicting classifications of pathogenicity MAGED2-related disorder, MAGED2-related disorder
RS2519305695 MAGED2 Health Risk Likely pathogenic —
RS2519307166 USP9X Health Risk Likely pathogenic USP9X-related disorder, USP9X-related disorder
RS2519307322 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2519308659 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS2519310187 MAGED2 Health Risk Likely pathogenic Bartter disease type 5, Bartter disease type 5
RS2519312896 PHF8 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2519314807 NDP Health Risk Likely pathogenic —
RS2519314854 NDP Health Risk Pathogenic —
RS2519314892 NDP Health Risk Pathogenic —
RS2519314898 NDP Health Risk Pathogenic —
RS2519314939 NDP Health Risk Pathogenic —
RS2519314969 NDP Health Risk Pathogenic —
RS2519315025 NDP Health Risk Pathogenic —
RS2519315108 NDP Health Risk Pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2519316864 USP9X Health Risk Likely pathogenic —
RS2519317743 CNKSR2 Health Risk Pathogenic —
RS2519320420 NDP Health Risk Pathogenic —
RS2519320436 NDP Health Risk Likely pathogenic —
RS2519320479 NDP Health Risk Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2519320503 NDP Health Risk Likely pathogenic —
RS2519320606 NDP Health Risk Pathogenic —
RS2519321757 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2519321980 PIGA Health Risk Likely pathogenic —
RS2519324628 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2519324834 PIGA Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2519326142 PIGA Health Risk Likely pathogenic Epileptic encephalopathy, Thyroid cancer
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