SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS878853495 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS878853497 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853498 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853509 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853518 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853522 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Carcinoma of colon
RS878853525 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS878853529 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853530 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS878853531 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS878853533 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS878853535 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853536 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853538 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS878853544 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853545 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853546 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS878853553 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS878853556 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853557 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853558 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853559 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853560 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853561 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853562 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853563 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853564 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853565 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853566 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853567 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853568 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853569 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853570 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853571 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853573 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853575 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853577 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853578 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853579 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853581 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853582 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853583 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853584 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853585 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853586 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853587 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853588 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853590 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853591 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853594 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853595 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853597 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853598 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853599 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853601 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853605 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853608 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853609 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853611 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853614 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853616 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
RS878853619 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS878853625 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS878853626 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS878853629 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Hereditary cancer
RS878853630 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS878853632 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS878853636 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS878853637 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS878853644 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS878853647 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS878853648 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS878853650 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS878853651 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS878853652 COL5A1 Health Risk Conflicting classifications of pathogenicity Fibromuscular dysplasia, multifocal
RS878853654 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS878853656 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS878853657 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, See cases
RS878853658 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS878853659 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS878853660 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS878853663 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS878853666 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS878853668 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS878853671 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS878853675 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853676 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS878853677 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS878853679 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS878853682 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853685 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853686 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS878853687 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853688 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853689 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS878853691 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS878853694 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853695 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS878853697 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS878853698 GLA Health Risk Pathogenic Fabry disease, Fabry disease
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