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.
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
35 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 45 2009 2019
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
81 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 29 2010 2019
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 28 2011 2020
Obesity
CUI: C0028754
Disease: Obesity
1111 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 16 2008 2019
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
20 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 14 2011 2019
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
17 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 13 2010 2019
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
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.790 1.000 10 2010 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
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
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.730 1.000 4 2011 2019
Alanine aminotransferase measurement
CUI: C0201836
Disease: Alanine aminotransferase measurement
77 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 3 2011 2018
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
Serum Alanine Aminotransferase Measurement
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
77 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 3 2011 2018
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