rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 11 2012 2019
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
60 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 11 2011 2019
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.090 1.000 9 2011 2018
Complete atrioventricular block
CUI: C0151517
Disease: Complete atrioventricular block
96 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.050 0.800 5 2013 2018
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.050 0.800 5 2011 2015
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
72 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2011 2015
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 1.000 4 2013 2018
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 1.000 4 2013 2018
Liver and Intrahepatic Biliary Tract Carcinoma
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
73 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2011 2015
Metabolic Diseases
CUI: C0025517
Disease: Metabolic Diseases
50 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2010 2016
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2017 2019
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2011 2019
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2011 2019
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
14 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2015 2018
Hepatitis B, Chronic
CUI: C0524909
Disease: Hepatitis B, Chronic
84 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2013 2015
Hepatitis, Alcoholic
CUI: C0019187
Disease: Hepatitis, Alcoholic
1 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2016 2017
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2012 2013
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
169 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2011 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2015 2017
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
103 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2017 2018
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
49 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2010 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2015 2017
Viral hepatitis
CUI: C0042721
Disease: Viral hepatitis
5 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2013 2018
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
10 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Adult Hepatocellular Carcinoma
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
14 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2013 2013