rs104894291, RAG1

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 0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05 0.800 1.000 6 1998 2011
Combined Cellular And Humoral Immune Defects With Granulomas
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
19 0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05 0.700 1.000 5 1998 2014
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 0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05 0.700 1.000 5 1998 2014