Source: ALL
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 5 2011 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP O
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
63 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 3 2011 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
25 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 1 2011 2011
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 1 2011 2011