rs111033618, IL2RG

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.
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
42 0.925 0.120 X 71109321 missense variant G/A snv 0.810 1.000 3 1995 2018
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
48 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2012 2012
Opportunistic Infections
CUI: C0029118
Disease: Opportunistic Infections
7 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2018 2018
Severe combined immunodeficiency, atypical
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
6 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2014 2014