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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06 0.700 1.000 7 1996 2015
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06 0.700 1.000 5 1996 2015