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 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 13 1996 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 1996 2016
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
22 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 0