Source: CLINVAR

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: rs879253742
rs879253742
IL2RG
X 71111493 missense variant A/G snv
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		0.700 0
dbSNP: rs879253742
rs879253742
IL2RG
X 71111493 missense variant A/G snv
CUI: C4023393
Disease: Recurrent viral skin infections
Recurrent viral skin infections 		0.700 0
dbSNP: rs879253742
rs879253742
IL2RG
X 71111493 missense variant A/G snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.700 0
dbSNP: rs879253742
rs879253742
IL2RG
X 71111493 missense variant A/G snv
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		0.700 0