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.
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
42 0.925 0.120 X 71107864 stop gained G/A snv 0.700 0
EBV-Related Lymphoma
CUI: C1333431
Disease: EBV-Related Lymphoma
1 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020