Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033618
rs111033618
IL2RG
0.925 0.120 X 71109321 missense variant G/A snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.810 1.000 2 1995 2018
dbSNP: rs111033617
rs111033617
IL2RG ; CXorf65
X 71108599 missense variant C/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs111033620
rs111033620
IL2RG
X 71110617 missense variant C/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs111033621
rs111033621
IL2RG
X 71110292 missense variant A/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs111033622
rs111033622
IL2RG
1.000 0.200 X 71110615 missense variant A/G snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs137852510
rs137852510
IL2RG ; CXorf65
X 71108323 stop lost A/G;T snv 5.5E-06
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 2 1995 1997
dbSNP: rs1057521062
rs1057521062
IL2RG
X 71110283 missense variant G/A snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.710 1.000 0 1999 1999