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.
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
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
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
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
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
alcohol-related liver disease
CUI: C0810031
Disease: alcohol-related liver disease
2 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
441 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
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
Asthma
CUI: C0004096
Disease: Asthma
1536 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 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
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2016 2016
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Childhood Hepatocellular Carcinoma
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
17 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2013 2013
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
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 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
Chronic Liver Failure
CUI: C2936476
Disease: Chronic Liver Failure
1 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
Chronic viral hepatitis
CUI: C0276623
Disease: Chronic viral hepatitis
8 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.889 27 2011 2019
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
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
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