SLC10A1, solute carrier family 10 member 1, 6554

N. diseases: 54; N. variants: 7
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: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.100 0.938 16 2014 2019
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.070 1.000 7 2016 2019
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.060 1.000 6 2015 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2016 2019
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 1.000 4 2016 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2016 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2018
dbSNP: rs4646287
rs4646287 		0.925 0.120 14 69796098 intron variant C/T snv 3.3E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs148467625
rs148467625 		1.000 0.080 14 69796893 missense variant A/G snv 1.4E-03 7.3E-04
CUI: C1565886
Disease: Indirect Hyperbilirubinemia, Neonatal
Indirect Hyperbilirubinemia, Neonatal 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2017 2017
dbSNP: rs201339654
rs201339654 		0.925 0.080 14 69786192 missense variant C/G;T snv 8.0E-06; 2.0E-05
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs201339654
rs201339654 		0.925 0.080 14 69786192 missense variant C/G;T snv 8.0E-06; 2.0E-05
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C3850141
Disease: Acute-On-Chronic Liver Failure
Acute-On-Chronic Liver Failure 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2296651
rs2296651 		0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4646285
rs4646285 		1.000 0.080 14 69796931 synonymous variant C/T snv 9.7E-02 7.2E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs4646287
rs4646287 		0.925 0.120 14 69796098 intron variant C/T snv 3.3E-03
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs7154439
rs7154439 		0.925 0.120 14 69799111 upstream gene variant G/A snv 0.36
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs7154439
rs7154439 		0.925 0.120 14 69799111 upstream gene variant G/A snv 0.36
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs943277
rs943277 		1.000 0.080 14 69794608 intron variant G/A snv 0.13
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017