rs121918572, RAG1;RAG2

N. diseases: 4
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 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2007 2009
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 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2007 2009
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
7 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009