IL2RG, interleukin 2 receptor subunit gamma, 3561

N. diseases: 164; N. variants: 42
Disease: X-Linked Combined Immunodeficiency Diseases ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520644
rs1057520644 		1.000 0.040 X 71110964 missense variant C/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 3 1994 2015