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: 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: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0346163
Disease: Endometrioid carcinoma ovary
Endometrioid carcinoma ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464 		0.708 0.280 12 52918828 intron variant C/T snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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