rs193922464, 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.
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 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 0
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.882 0.160 11 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 0
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 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 0