Source: INFERRED ×
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.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 0