rs121918574, IFTAP;RAG2

N. diseases: 2
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.
Combined Cellular And Humoral Immune Defects With Granulomas
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
19 1.000 0.160 11 36593939 missense variant G/T snv 0.800 1.000 1 2008 2008
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
23 1.000 0.160 11 36593939 missense variant G/T snv 0.700 1.000 1 2008 2008