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 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 8 1996 2017
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 4 1996 2003