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
RS1060502543 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1060502547 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1060502551 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1060502563 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1060502571 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1060502576 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1060502579 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1060502581 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1060502584 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1060502586 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502587 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1060502588 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502589 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502590 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502591 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502592 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502593 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502594 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502595 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502597 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502599 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502601 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1060502602 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502603 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502604 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502605 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502606 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1060502607 CALM3 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 16
RS1060502608 CALM3 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1060502612 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1060502613 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502615 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502616 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1060502619 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1060502620 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502621 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502623 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502624 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502625 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502626 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502627 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502628 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502629 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502630 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502631 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502632 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502633 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502634 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502635 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502636 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502637 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502639 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1060502640 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502641 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502643 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502644 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502645 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502646 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502647 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502648 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502652 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502653 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502656 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502659 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502661 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1060502664 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1060502665 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1060502666 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1060502671 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS1060502684 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502687 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1060502688 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502698 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502701 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502708 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502710 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502716 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502720 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502721 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502722 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502725 WASHC5 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1060502726 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502727 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1060502734 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502735 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502737 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502738 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502739 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502741 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502747 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502748 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group N
RS1060502757 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502758 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502759 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502760 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502761 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502764 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502765 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502766 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060502768 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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