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: rs1064793347
rs1064793347 		0.925 0.120 X 71107864 stop gained 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 0
dbSNP: rs111033619
rs111033619 		X 71110980 stop gained 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 0.700 0
dbSNP: rs137852507
rs137852507 		X 71110603 stop gained T/A;G 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 0.700 0
dbSNP: rs137852508
rs137852508 		X 71108336 stop gained 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 0
dbSNP: rs137852509
rs137852509 		X 71108278 stop gained G/A;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 0.700 0
dbSNP: rs137852511
rs137852511 		X 71110506 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: rs1556329779
rs1556329779 		X 71108291 frameshift variant GTATTCAG/- delins
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: rs1556330234
rs1556330234 		X 71109265 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 0
dbSNP: rs1556330286
rs1556330286 		X 71109383 stop gained G/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: rs1556330552
rs1556330552 		X 71110188 stop gained 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 0
dbSNP: rs1556330562
rs1556330562 		X 71110202 frameshift variant A/- delins
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: rs1556330713
rs1556330713 		X 71110537 stop gained 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 0
dbSNP: rs1556330755
rs1556330755 		X 71110614 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 0
dbSNP: rs1556331272
rs1556331272 		X 71111440 stop gained C/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 0
dbSNP: rs1569479994
rs1569479994 		X 71110285 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 0
dbSNP: rs1569480018
rs1569480018 		X 71110503 splice donor 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 0
dbSNP: rs1569480047
rs1569480047 		X 71110688 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 0
dbSNP: rs1569480082
rs1569480082 		X 71110985 stop gained 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 0
dbSNP: rs193922346
rs193922346 		X 71110689 splice acceptor variant C/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 0
dbSNP: rs193922347
rs193922347 		X 71110644 missense 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: rs193922348
rs193922348 		1.000 0.120 X 71110295 missense variant A/C;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: rs193922349
rs193922349 		X 71109323 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: rs193922350
rs193922350 		X 71109275 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 0
dbSNP: rs587776729
rs587776729 		X 71109273 inframe insertion -/CCAATGCTG delins
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: rs869320658
rs869320658 		X 71109315 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 0