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 23603658 frameshift variant AC/A in-del 4.0E-06 0.700 13 2006 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 1.000 0.071 16 23603658 frameshift variant AC/A in-del 4.0E-06 0.700 9 2014 2017