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 108325416 missense variant C/A;T snv 1.4E-05 0.800 1.000 11 2003 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 1.000 10 1999 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.010 1.000 1 2009 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.010 1.000 1 2009 2009