KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Disease: Cirrhosis, Familial ×
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: rs57354642
rs57354642 		1.000 0.120 12 52951605 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 1997 2003
dbSNP: rs57758506
rs57758506 		0.882 0.120 12 52949556 missense variant A/T snv 6.3E-04 3.2E-04
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 1997 2003
dbSNP: rs61136606
rs61136606 		1.000 0.120 12 52949480 missense variant A/G snv 8.1E-06
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 1997 2003
dbSNP: rs61710484
rs61710484 		1.000 0.120 12 52904824 missense variant C/A;T snv 1.6E-05; 4.0E-06
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0