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 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 8 1998 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 6 1998 2016
bilateral breast cancer
CUI: C0281267
Disease: bilateral breast cancer
17 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 0