rs193922348, IL2RG

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.
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
42 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0