rs909264507, 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.
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
23 1.000 0.120 11 36593976 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
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 1.000 0.120 11 36593976 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011