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.
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
48 1.000 0.120 11 36592812 missense variant A/T snv 0.700 1.000 2 2000 2002
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
23 1.000 0.120 11 36592812 missense variant A/T snv 0.700 1.000 2 2000 2002