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 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 1.000 11 1998 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 1.000 11 1998 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 0