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.
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
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
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
CUI: C1868117
Disease: POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
1 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Premenstrual syndrome
CUI: C0033046
Disease: Premenstrual syndrome
1 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Renal tubular injury
CUI: C4324374
Disease: Renal tubular injury
1 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2020 2020
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
End Stage Liver Disease
CUI: C0745744
Disease: End Stage Liver Disease
3 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
Obesity, Visceral
CUI: C2936179
Disease: Obesity, Visceral
3 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1 2010 2010
Portal cirrhosis
CUI: C1622502
Disease: Portal cirrhosis
4 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.700 1.000 1 2015 2015
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
HCV coinfection
CUI: C1698259
Disease: HCV coinfection
5 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
Posterior subcapsular cataract
CUI: C0858617
Disease: Posterior subcapsular cataract
9 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 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
Hepatitis, Chronic
CUI: C0019189
Disease: Hepatitis, Chronic
10 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2013 2013
Respiratory Tract Infections
CUI: C0035243
Disease: Respiratory Tract Infections
10 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2020 2020
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
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
Liver Cirrhosis, Alcoholic
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
15 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.790 0.800 10 2010 2017
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
15 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2016 2016
Prediabetes syndrome
CUI: C0362046
Disease: Prediabetes syndrome
16 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 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
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
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
Liver Failure
CUI: C0085605
Disease: Liver Failure
20 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019