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.
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
705 1.000 0.071 16 23634954 frameshift variant CA/C in-del 1.8E-04 9.6E-05 0.700 7 2007 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 1.000 0.071 16 23634954 frameshift variant CA/C in-del 1.8E-04 9.6E-05 0.700 4 2008 2017
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
15 1.000 0.071 16 23634954 frameshift variant CA/C in-del 1.8E-04 9.6E-05 0.700 1 2007 2007