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
RS1557236565 IKBKG Health Risk Pathogenic —
RS1557236571 IKBKG Health Risk Pathogenic —
RS1557236698 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1557236729 ATP7A Health Risk Likely pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
RS1557236754 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1557236762 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS1557236795 IKBKG Health Risk Pathogenic —
RS1557236796 IKBKG Health Risk Likely pathogenic Incontinentia pigmenti syndrome, ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
RS1557236929 IKBKG Health Risk Likely pathogenic —
RS1557237050 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1557237081 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS1557237441 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1557237451 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS1557237460 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557238006 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1557238254 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557238569 ATP7A Health Risk Likely pathogenic —
RS1557238588 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1557238590 ATP7A Health Risk Pathogenic —
RS1557238665 ATP7A Health Risk Likely pathogenic X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1557239111 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557239138 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1557239144 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1557247556 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS1557248142 ALAS2 Health Risk Pathogenic/Likely pathogenic X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS1557256416 AFF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557264102 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS1557265435 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS1557265675 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cataracts
RS1557271042 F8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557272125 DMD Health Risk Pathogenic —
RS1557275595 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1557278259 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS1557278265 F8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary factor VIII deficiency disease
RS1557278411 F8 Health Risk Pathogenic —
RS1557278778 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1557280964 F8 Health Risk Likely pathogenic —
RS1557281261 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Thrombophilia
RS1557281265 F8 Health Risk Pathogenic/Likely pathogenic —
RS1557281954 F8 Health Risk Pathogenic —
RS1557285171 F8 Health Risk Pathogenic —
RS1557290181 DMD Health Risk Pathogenic —
RS1557290355 DMD Health Risk Pathogenic —
RS1557291003 DMD Health Risk Pathogenic —
RS1557291170 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557291229 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557291242 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557292599 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Dystrophin deficiency
RS1557292678 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557294228 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557294296 DMD Health Risk Pathogenic —
RS1557294341 DMD Health Risk Pathogenic —
RS1557300135 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557303381 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1557303544 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557304860 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557305418 DMD Health Risk Pathogenic —
RS1557305645 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557314191 RAB39B Health Risk Pathogenic Intellectual disability, X-linked 72
RS1557314544 RAB39B Health Risk Pathogenic —
RS1557315881 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS1557315928 DMD Health Risk Pathogenic Calf muscle hypertrophy, Primary dilated cardiomyopathy
RS1557316295 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557320151 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557320194 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557322177 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557322201 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557322834 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557322838 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557337595 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1557338104 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557338127 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557338131 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1557338153 IDS Health Risk Likely pathogenic —
RS1557338581 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557338597 IDS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS1557339507 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557339532 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557339887 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557339927 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557340221 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557340233 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557340261 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557340280 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557340286 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1557340403 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557340452 DMD Health Risk Pathogenic —
RS1557340558 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1557340600 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1557357445 DMD Health Risk Pathogenic —
RS1557359155 DMD Health Risk Pathogenic —
RS1557359192 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557359217 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557362198 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557365503 DMD Health Risk Pathogenic —
RS1557369377 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557369413 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557369493 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557369964 DMD Health Risk Pathogenic/Likely pathogenic —
RS1557369991 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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