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.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06 0.700 1.000 20 1995 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06 0.700 1.000 3 1999 2015