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.
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
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
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1 2012 2012
Pediatric Obesity
CUI: C2362324
Disease: Pediatric Obesity
67 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2011 2011
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
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
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
Premature coronary artery atherosclerosis
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
43 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2017 2017
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
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
667 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
58 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2015 2015
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
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
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
42 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
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
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