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: rs190477302
rs190477302
1.000 22 43932990 missense variant C/G;T snv 4.0E-06; 2.5E-04
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
0.700 0
dbSNP: rs2072907
rs2072907
0.882 0.120 22 43936773 intron variant C/G snv 0.20
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2072907
rs2072907
0.882 0.120 22 43936773 intron variant C/G snv 0.20
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 0.667 3 2008 2009
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
Nutritional and Metabolic Diseases 0.040 0.750 4 2010 2016
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
Liver and Intrahepatic Biliary Tract Carcinoma
Digestive System Diseases; Neoplasms 0.040 0.750 4 2011 2015
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
Digestive System Diseases; Neoplasms 0.040 0.750 4 2011 2015
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
Liver Cirrhosis, Alcoholic
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Chemically-Induced Disorders 0.790 0.800 10 2010 2017
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.050 0.800 5 2013 2018
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
Digestive System Diseases; Neoplasms 0.050 0.800 5 2011 2015
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.100 0.862 29 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
Pathological Conditions, Signs and Symptoms 0.100 0.889 27 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.100 0.905 21 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.100 0.938 16 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
Digestive System Diseases 0.100 0.944 89 2009 2020
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.100 0.946 37 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.900 0.953 149 2009 2020
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.100 0.958 24 2010 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
Digestive System Diseases 0.100 1.000 45 2009 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.800 1.000 29 2010 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023895
Disease: Liver diseases
Liver diseases
Digestive System Diseases 0.100 1.000 28 2011 2020
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 1.000 16 2008 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
Digestive System Diseases; Chemically-Induced Disorders 0.100 1.000 14 2011 2019
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
Digestive System Diseases 0.100 1.000 13 2010 2019