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
RS2503122941 TTLL5 Health Risk Pathogenic —
RS2503123019 SPTB Health Risk Pathogenic/Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2503123056 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503126790 NALCN Health Risk Likely pathogenic —
RS2503126833 SPTB Health Risk Pathogenic —
RS2503126847 SPTB Health Risk Likely pathogenic —
RS2503126886 SPTB Health Risk Likely pathogenic —
RS2503126931 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503126943 SPTB Health Risk Likely pathogenic —
RS2503127787 SPTB Health Risk Likely pathogenic —
RS2503128128 SPTB Health Risk Pathogenic —
RS2503128717 SPTB Health Risk Likely pathogenic —
RS2503129066 NEMF Health Risk Pathogenic —
RS2503129257 SPTB Health Risk Pathogenic SPTB-related disorder, SPTB-related disorder
RS2503130201 SPTB Health Risk Likely pathogenic —
RS2503130437 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503130656 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503131021 SPTB Health Risk Likely pathogenic —
RS2503131597 SPTB Health Risk Pathogenic —
RS2503132072 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2503132095 SPTB Health Risk Likely pathogenic —
RS2503132758 HIF1A Health Risk Likely pathogenic Enchondromatosis, Enchondromatosis
RS2503132897 SPTB Health Risk Likely pathogenic —
RS2503133074 SPTB Health Risk Likely pathogenic —
RS2503133337 SPTB Health Risk Likely pathogenic —
RS2503133456 SPTB Health Risk Likely pathogenic —
RS2503133461 SPTB Health Risk Likely pathogenic —
RS2503134087 TTLL5 Health Risk Likely pathogenic —
RS2503134264 TTLL5 Health Risk Pathogenic —
RS2503144489 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2503149736 SPTB Health Risk Likely pathogenic —
RS2503149952 HIF1A Health Risk Likely pathogenic Maffucci syndrome, Maffucci syndrome
RS2503150240 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503150817 SPTB Health Risk Likely pathogenic —
RS2503151300 VIPAS39 Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS2503151361 NEMF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503151406 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503151447 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503151450 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503152623 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503155082 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503155393 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503155551 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503155683 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503155838 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503156034 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503156139 HIF1A Health Risk Likely pathogenic Enchondromatosis, Enchondromatosis
RS2503156182 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503156423 TSHR Health Risk Pathogenic —
RS2503156501 SPTB Health Risk Likely pathogenic —
RS2503156505 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503156735 SPTB Health Risk Likely pathogenic —
RS2503156798 SPTB Health Risk Likely pathogenic —
RS2503157018 ACTN1 Health Risk Likely pathogenic —
RS2503157059 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503157076 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Elliptocytosis 3
RS2503157131 SPTB Health Risk Likely pathogenic —
RS2503157868 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503158289 SPTB Health Risk Pathogenic —
RS2503158326 SPTB Health Risk Likely pathogenic —
RS2503158386 SPTB Health Risk Likely pathogenic —
RS2503158726 SPTB Health Risk Pathogenic —
RS2503159407 SPTB Health Risk Pathogenic See cases, See cases
RS2503159452 SPTB Health Risk Likely pathogenic —
RS2503160116 SPTB Health Risk Likely pathogenic Hereditary spherocytosis, Hereditary spherocytosis
RS2503160278 SPTB Health Risk Likely pathogenic —
RS2503160291 SPTB Health Risk Pathogenic —
RS2503160354 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503160732 SPTB Health Risk Likely pathogenic —
RS2503160747 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503160993 SPTB Health Risk Likely pathogenic —
RS2503161325 SPTB Health Risk Likely pathogenic —
RS2503162227 SPTB Health Risk Likely pathogenic —
RS2503162325 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503162337 SPTB Health Risk Pathogenic —
RS2503162476 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503162520 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503162597 SPTB Health Risk Likely pathogenic —
RS2503162667 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503163014 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503163092 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503163168 SPTB Health Risk Pathogenic SPTB-related disorder, SPTB-related disorder
RS2503163247 SPTB Health Risk Pathogenic —
RS2503163480 SPTB Health Risk Pathogenic —
RS2503165018 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503166655 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503167151 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503167593 SPTB Health Risk Pathogenic SPTB-related disorder, SPTB-related disorder
RS2503167736 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503168303 SPTB Health Risk Likely pathogenic —
RS2503170895 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503171373 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503171526 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503172640 FANCM Health Risk Likely pathogenic See cases, See cases
RS2503172927 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503173030 SPTB Health Risk Likely pathogenic —
RS2503173041 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503173064 SPTB Health Risk Pathogenic Anemia, Anemia
RS2503173177 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503173416 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
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