TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
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: rs2304256
rs2304256
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs34536443
rs34536443
0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012