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: 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: 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: 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: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C4324374
Disease: Renal tubular injury
Renal tubular injury 		0.010 1.000 1 2020 2020
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: 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: 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: 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: 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: 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: 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
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.100 1.000 11 2012 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.100 1.000 11 2011 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.790 1.000 10 2010 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.730 1.000 4 2011 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.030 1.000 3 2011 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 1.000 3 2017 2019
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.030 1.000 3 2011 2019
dbSNP: rs12483959
rs12483959 		1.000 22 43930116 intron variant G/A;C;T snv
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 2 2011 2019
dbSNP: rs12483959
rs12483959 		1.000 22 43930116 intron variant G/A;C;T snv
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 2 2011 2019