rs121917895, RAG2;IFTAP

N. diseases: 3
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 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.800 1.000 2 1998 2001
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
23 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.700 1.000 1 2001 2001
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
32 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.700 1.000 1 2001 2001