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
RS2122436225 FTL Health Risk Pathogenic/Likely pathogenic Neuroferritinopathy, Neuroferritinopathy
RS2122437453 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2122440638 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS2122461010 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122474072 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122477513 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122495575 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122503565 SLC4A11 Health Risk Pathogenic —
RS2122503902 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS2122506319 CSNK2A1 Health Risk Pathogenic/Likely pathogenic —
RS2122507340 POLD1 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS2122509398 POLD1 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Hereditary cancer-predisposing syndrome
RS2122509664 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122509752 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122516373 SLC4A11 Health Risk Pathogenic —
RS2122520177 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122520738 SLC4A11 Health Risk Pathogenic —
RS2122521078 POLD1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2122521678 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2122521881 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2122523501 SLC4A11 Health Risk Pathogenic —
RS2122525139 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122525167 SLC4A11 Health Risk Pathogenic —
RS2122525708 GYS1 Health Risk Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS2122527578 SLC4A11 Health Risk Pathogenic —
RS2122531973 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2122537652 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder
RS2122541178 SLC4A11 Health Risk Pathogenic —
RS2122542952 SLC4A11 Health Risk Likely pathogenic —
RS2122548698 SLC4A11 Health Risk Likely pathogenic —
RS2122554800 SLC4A11 Health Risk Pathogenic —
RS2122554995 SLC4A11 Health Risk Likely pathogenic —
RS2122557589 SLC4A11 Health Risk Pathogenic —
RS2122559586 CSNK2A1 Health Risk Pathogenic —
RS2122559628 CSNK2A1 Health Risk Conflicting classifications of pathogenicity Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder
RS2122587910 SLC4A11 Health Risk Pathogenic —
RS2122588719 SLC4A11 Health Risk Pathogenic —
RS2122593684 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595010 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595154 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595262 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595645 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595693 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595849 JAG1 Health Risk Likely pathogenic Hepatic Ductular Hypoplasia, Hepatic Ductular Hypoplasia
RS2122595901 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122595945 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122596452 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122596864 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS2122597170 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122597239 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122597276 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122597289 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122597347 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122598522 JAG1 Health Risk Pathogenic —
RS2122598564 SLC4A11 Health Risk Pathogenic —
RS2122600427 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122600431 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122600550 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122601454 POFUT1 Health Risk Pathogenic Dowling-Degos disease 2, Dowling-Degos disease 2
RS2122602312 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122602509 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122602893 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122603085 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122603096 JAG1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2122604461 JAG1 Health Risk Pathogenic —
RS2122604480 JAG1 Health Risk Pathogenic Charcot-Marie-Tooth disease, axonal
RS2122606113 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122606128 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122606192 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122606213 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122606277 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122606362 JAG1 Health Risk Pathogenic Charcot-Marie-Tooth disease, axonal
RS2122607604 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122607689 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122607723 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease
RS2122607772 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122608790 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122608799 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122608890 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122609680 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122609879 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122609947 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2122610459 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122611488 JAG1 Health Risk Pathogenic —
RS2122611660 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122612115 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS2122612431 SLC4A11 Health Risk Pathogenic —
RS2122613554 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122613705 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122614368 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122614453 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122614562 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122615095 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2122615158 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122616718 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5
RS2122617005 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122620277 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122620454 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122620867 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122621481 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
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