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
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 8 1995 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 7 1998 2017