Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
FANCONI ANEMIA, COMPLEMENTATION GROUP O
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
63 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 7 2010 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
23 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 2 2015 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 2 2015 2016