TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
Disease: Tyrosine Kinase 2 Deficiency ×
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: rs775578531
rs775578531 		1.000 0.120 19 10353648 splice acceptor variant T/C snv 7.2E-06
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2012 2015
dbSNP: rs770927552
rs770927552 		1.000 0.120 19 10368400 frameshift variant CAAG/- delins 4.8E-05
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1555715518
rs1555715518 		1.000 0.120 19 10351162 frameshift variant -/G ins
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs201025290
rs201025290 		1.000 0.120 19 10361817 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869320745
rs869320745 		1.000 0.120 19 10358003 stop gained CCTCCCTGG/- del 4.0E-06
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs879253731
rs879253731 		1.000 0.120 19 10368060 stop gained C/A snv
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs879253732
rs879253732 		1.000 0.120 19 10378258 frameshift variant G/- del
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0