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 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1995 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 7 1998 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2009 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2009 2009