rs121917894, IFTAP;RAG2

N. diseases: 5
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.
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 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1996 1996
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
48 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.040 1.000 4 2007 2019
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
23 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2007 2007
Eosinophilic disorder
CUI: C1306759
Disease: Eosinophilic disorder
22 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2007 2007
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2019 2019