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: 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: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C1835713
Disease: CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding) 		0.700 0
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
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
dbSNP: rs57758506
rs57758506 		0.882 0.120 12 52949556 missense variant A/T snv 6.3E-04 3.2E-04
CUI: C1835713
Disease: CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding) 		0.700 0
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: 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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.020 1.000 2 2003 2006
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2003 2006
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2003 2003
dbSNP: rs57749775
rs57749775 		0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2003 2003
dbSNP: rs57749775
rs57749775 		0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2003 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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.020 0.500 2 2004 2014
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs57749775
rs57749775 		0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs571462252
rs571462252 		0.925 0.080 12 52904720 missense variant G/A snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs571462252
rs571462252 		0.925 0.080 12 52904720 missense variant G/A snv
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.020 1.000 2 2006 2006
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11554495
rs11554495 		0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2006 2006