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: rs879253742
rs879253742 		X 71111493 missense variant A/G 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 0
dbSNP: rs886039387
rs886039387 		X 71110703 intron variant T/C 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 0
dbSNP: rs111033617
rs111033617 		X 71108599 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 0.800 1.000 11 1993 1997
dbSNP: rs111033620
rs111033620 		X 71110617 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 0.800 1.000 11 1993 1997
dbSNP: rs111033621
rs111033621 		X 71110292 missense variant A/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 0.800 1.000 11 1993 1997
dbSNP: rs111033622
rs111033622 		1.000 0.200 X 71110615 missense variant A/G snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 11 1993 1997
dbSNP: rs137852510
rs137852510 		X 71108323 stop lost A/G;T snv 5.5E-06
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 2 1995 1997
dbSNP: rs1057521062
rs1057521062 		X 71110283 missense variant G/A snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.710 1.000 1 1999 1999
dbSNP: rs1556329822
rs1556329822 		X 71108347 splice acceptor 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 2 1997 2000
dbSNP: rs886042051
rs886042051 		X 71108696 splice acceptor 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 2 1997 2000
dbSNP: rs1556330568
rs1556330568 		X 71110228 stop gained 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 1 2000 2000
dbSNP: rs869320660
rs869320660 		X 71109308 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 6 1997 2011
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
dbSNP: rs869320659
rs869320659 		X 71109309 missense variant G/A 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 11 1990 2017
dbSNP: rs111033618
rs111033618 		0.925 0.120 X 71109321 missense variant G/A snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.810 1.000 3 1995 2018