KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
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: rs57758506
rs57758506
0.882 0.120 12 52949556 missense variant A/T snv 6.3E-04 3.2E-04
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.710 1.000 1 1997 1997
dbSNP: rs11554495
rs11554495
0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs57749775
rs57749775
0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0