chr22:43928847:C>G Detail (hg38) (PNPLA3)

Information

Genome

Assembly Position
hg19 chr22:44,324,727-44,324,727 View the variant detail on this assembly version.
hg38 chr22:43,928,847-43,928,847

HGVS

Type Transcript Protein
RefSeq NM_025225.2:c.444C>G NP_079501.2:p.Ile148Met
Ensemble ENST00000216180.8:c.444C>G ENST00000216180.8:p.Ile148Met
ENST00000423180.2:c.432C>G ENST00000423180.2:p.Ile144Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.452
ToMMo:0.460
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.378

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 609567 OMIM
HGNC 18590 HGNC
Ensembl ENSG00000100344 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66108497 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign; risk factor 2021-03-12 criteria provided, multiple submitters, no conflicts NAFLD1 germline Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2024-05-07 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
0.002 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
<0.001 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.002 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.005 Cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.002 Cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.006 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.008 liver cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.003 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.006 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.007 liver cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.095 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.220 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.144 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.003 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.265 Non-alcoholic Fatty Liver Disease Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin... BeFree 24707151 Detail
0.265 Non-alcoholic Fatty Liver Disease Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase ... BeFree 23484035 Detail
0.009 Steatohepatitis We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
0.163 Fatty Liver We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
0.163 Fatty Liver A discrete trait analysis of NAFLD showed that rs58542926 was associated with a ... BeFree 25302781 Detail
0.265 Non-alcoholic Fatty Liver Disease A discrete trait analysis of NAFLD showed that rs58542926 was associated with a ... BeFree 25302781 Detail
0.122 Non-alcoholic Fatty Liver Disease Here we aimed to investigate the contribution of DNL to liver fat accumulation i... BeFree 25763607 Detail
0.265 Non-alcoholic Fatty Liver Disease Here we aimed to investigate the contribution of DNL to liver fat accumulation i... BeFree 25763607 Detail
0.004 Fibrosis, Liver Furthermore, using two histologically characterized cohorts encompassing steatos... BeFree 24978903 Detail
0.265 Non-alcoholic Fatty Liver Disease A genetic variant in PNPLA3 (PNPLA3(I148M)), a triacylglycerol (TAG) hydrolase, ... BeFree 23023705 Detail
0.163 Fatty Liver To develop an animal model of PNPLA3-induced fatty liver disease, we generated t... BeFree 23023705 Detail
0.008 liver cirrhosis The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. BeFree 25378656 Detail
0.163 Fatty Liver No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirr... BeFree 24349054 Detail
0.004 Fibrosis, Liver The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers ... BeFree 25171251 Detail
0.009 Steatohepatitis The PNPLA3 I148M variant (rs738409) is robustly associated with hepatic steatosi... BeFree 19844213 Detail
0.006 liver carcinoma Association between the PNPLA3 (rs738409 C&gt;G) variant and hepatocellular carc... BeFree 24114809 Detail
0.030 obesity Circulating triacylglycerol signatures in nonalcoholic fatty liver disease assoc... BeFree 24009255 Detail
0.002 Nonalcoholic Steatohepatitis These findings suggest that the rs738409 polymorphism in PNPLA3 gene confers hig... BeFree 25791171 Detail
<0.001 Steatohepatitis Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma In North African subjects, the PNPLA3 I148M variant apparently stimulates liver ... BeFree 24269995 Detail
0.006 liver carcinoma In end-stage liver disease patients, we identified ALD to be predominantly affec... BeFree 25273282 Detail
0.001 liver cirrhosis The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter w... BeFree 22863264 Detail
0.265 Non-alcoholic Fatty Liver Disease We aimed at studying the potential impact of the NAFLD-associated PNPLA3 rs73840... BeFree 22792295 Detail
0.004 Fibrosis, Liver Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domai... BeFree 23418085 Detail
0.163 Fatty Liver The lack of a relationship with visceral obesity and the inverse correlation wit... BeFree 20826584 Detail
0.163 Fatty Liver When SNPs were examined individually, using logistic regression, we only identif... BeFree 23292069 Detail
0.004 Fibrosis, Liver In particular, the common I148M variant of the PNPLA3 gene influencing hepatic l... BeFree 25278690 Detail
0.009 Steatohepatitis Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in ... BeFree 23564580 Detail
<0.001 HIV Infections CT-defined fatty liver is common among men at risk for HIV infection and is asso... BeFree 24642579 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
0.009 Steatohepatitis Moreover, we genotyped the same patients for the patatin-like phospholipase-cont... BeFree 25250621 Detail
0.008 Liver diseases Several studies have reported an association between the genetic variant rs73840... BeFree 23069476 Detail
0.265 Non-alcoholic Fatty Liver Disease This study explicated symptoms in persons with NAFLD at higher risk of disease p... BeFree 23849554 Detail
0.009 Steatohepatitis Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
0.005 Cirrhosis The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fi... BeFree 22719190 Detail
<0.001 Nonalcoholic Steatohepatitis Multivariate analysis indicated that PNPLA3 rs738409 G versus C allele remained ... BeFree 23418085 Detail
0.003 Hepatitis C, Chronic Interaction between PNPLA3 I148M variant and age at infection in determining fib... BeFree 25171251 Detail
<0.001 Fibrosis, Liver Stepwise logistic regression analysis revealed that factors predictive of advanc... BeFree 25457210 Detail
0.009 Steatohepatitis Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strong... BeFree 20546964 Detail
0.127 Liver Cirrhosis, Alcoholic We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver dis... BeFree 19946271 Detail
0.003 Alcoholic Intoxication, Chronic Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) genetic... BeFree 22704398 Detail
0.008 liver cirrhosis Overall, these results suggest that rs738409 exerts a marked influence on hepato... BeFree 24114809 Detail
0.265 Non-alcoholic Fatty Liver Disease In comparisons with 1,405 healthy controls from the Myocardial Genetics Consorti... GWASCAT 21423719 Detail
0.008 Fibrosis, Liver No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.030 obesity Association of the I148M/PNPLA3 variant with elevated alanine transaminase level... BeFree 23510779 Detail
0.004 Fibrosis, Liver PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic... BeFree 25624712 Detail
0.005 Cirrhosis Furthermore, using two histologically characterized cohorts encompassing steatos... BeFree 24978903 Detail
0.265 Non-alcoholic Fatty Liver Disease Our aims were to develop a method to accurately predict non-alcoholic fatty live... BeFree 19524579 Detail
0.002 hepatitis C We have assessed whether the PNPLA3 rs738409 (I148M) polymorphism may also affec... BeFree 24269995 Detail
0.004 Fibrosis, Liver The common PNPLA3 (adiponutrin) variant, p.I148M, was identified as a genetic de... BeFree 24152445 Detail
0.265 Non-alcoholic Fatty Liver Disease Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with... BeFree 21665509 Detail
0.002 hepatitis C PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjec... BeFree 25801076 Detail
0.003 Hepatitis C, Chronic Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, an... BeFree 21319195 Detail
0.008 liver cirrhosis The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter w... BeFree 22863264 Detail
<0.001 obesity Our data show that the PNPLA3 gene I148M variant is associated with increased le... BeFree 20546964 Detail
0.006 liver carcinoma PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcin... BeFree 22704398 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent Association of PNPLA3 SNP rs738409 with liver density in African Americans with ... BeFree 21665509 Detail
0.265 Non-alcoholic Fatty Liver Disease Inherited factors play a major role in the predisposition to nonalcoholic fatty ... BeFree 20373368 Detail
0.008 liver cirrhosis Furthermore, using two histologically characterized cohorts encompassing steatos... BeFree 24978903 Detail
0.102 obesity The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... BeFree 23269818 Detail
0.001 adrenoleukodystrophy We performed a systematic review of previous studies on the relationship between... BeFree 25060292 Detail
0.003 Hepatitis C, Chronic Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
0.008 liver cirrhosis PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction i... BeFree 23069476 Detail
0.163 Fatty Liver Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strong... BeFree 20546964 Detail
0.163 Fatty Liver The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatt... BeFree 22898488 Detail
0.008 Liver diseases PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of... BeFree 21745286 Detail
0.265 Non-alcoholic Fatty Liver Disease Recently, a PNPLA3 gene variant (I148M) was strongly associated with NAFLD and h... BeFree 23510779 Detail
0.006 liver carcinoma PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for ... BeFree 23333103 Detail
0.008 Liver diseases Aim of this study was to evaluate whether the I148M PNPLA3 polymorphism influenc... BeFree 22898488 Detail
<0.001 Fatty Liver In this study, we show that only in subjects with hepatic steatosis, the OXFAs a... BeFree 23815500 Detail
0.009 Steatohepatitis A single nucleotide polymorphism (SNP), the rs738409, in the patatin like phosph... BeFree 22629460 Detail
0.265 Non-alcoholic Fatty Liver Disease A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver ... BeFree 20034933 Detail
0.265 Non-alcoholic Fatty Liver Disease Carriage of the PNPLA3 rs738409 C &gt;G polymorphism confers an increased risk o... BeFree 24607626 Detail
0.265 Non-alcoholic Fatty Liver Disease Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fi... BeFree 25069572 Detail
0.163 Fatty Liver Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A in... BeFree 24828988 Detail
0.008 liver cirrhosis The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
0.127 Liver Cirrhosis, Alcoholic Systematic review with meta-analysis: the I148M variant of patatin-like phosphol... BeFree 25060292 Detail
<0.001 Obesity, Morbid Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indic... BeFree 19844213 Detail
0.265 Non-alcoholic Fatty Liver Disease The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase ... BeFree 22869157 Detail
0.008 Liver diseases Recently, the rs738409 I148M patatin-like phospholipase domain-containing 3 (PNP... BeFree 23564580 Detail
0.005 Cirrhosis PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of... BeFree 21745286 Detail
0.009 Steatohepatitis Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A in... BeFree 24828988 Detail
0.265 Non-alcoholic Fatty Liver Disease PNPLA3 rs738409 increased the OR of NAFLD by 1.622 (95% CI: 1.071, 2.457; P = 0.... BeFree 23269818 Detail
0.009 Steatohepatitis Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with ... BeFree 25986529 Detail
0.007 Overweight PNPLA3 I148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese ind... BeFree 26136587 Detail
0.265 Non-alcoholic Fatty Liver Disease Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identifie... BeFree 21893698 Detail
0.008 liver cirrhosis PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of... BeFree 21745286 Detail
0.003 Hepatitis C, Chronic The PNPLA3 (rs738409 C&gt;G) polymorphism favors steatosis and fibrosis progress... BeFree 21488075 Detail
<0.001 Virus Diseases Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) genetic... BeFree 22704398 Detail
0.001 adrenoleukodystrophy The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase ... BeFree 22869157 Detail
0.265 Non-alcoholic Fatty Liver Disease The common PNPLA3 (adiponutrin) variant p.I148M represents a major genetic drive... BeFree 24689094 Detail
0.265 Non-alcoholic Fatty Liver Disease Association of the rs738409 polymorphism in PNPLA3 with liver damage and the dev... BeFree 21176169 Detail
0.007 Overweight In CHB patients, the PNPLA3 I148M polymorphism influences susceptibility to stea... BeFree 23564580 Detail
0.265 Non-alcoholic Fatty Liver Disease Regarding the latter, a sequence variation within the gene coding for patatin-li... BeFree 22110053 Detail
0.127 Liver Cirrhosis, Alcoholic PNPLA3 genetic polymorphism (rs738409 C&gt;G) is associated with increased risk ... BeFree 25964223 Detail
0.002 Nonalcoholic Steatohepatitis Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emer... BeFree 24222094 Detail
0.163 Fatty Liver The adiponutrin/PNPLA3 (patatin-like phospholipase domain-containing protein 3) ... BeFree 21145868 Detail
0.265 Non-alcoholic Fatty Liver Disease The aim was to describe the different clinical presentations of non-alcoholic fa... BeFree 24947770 Detail
<0.001 Hepatitis B, Chronic Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with ... BeFree 25986529 Detail
0.006 liver carcinoma Carriage of the PNPLA3 rs738409 C &gt;G polymorphism confers an increased risk o... BeFree 24607626 Detail
0.005 Cirrhosis The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter w... BeFree 22863264 Detail
0.006 liver carcinoma The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers ... BeFree 25171251 Detail
0.030 obesity The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... BeFree 23269818 Detail
0.008 Liver diseases The G-allele in position rs738409 of patatin-like phospholipase domain-containin... BeFree 23872669 Detail
0.007 Metabolic syndrome X Age and HOMA-IR were positive independent predictors of metabolic syndrome, whil... BeFree 24947770 Detail
0.001 Cirrhosis The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter w... BeFree 22863264 Detail
0.265 Non-alcoholic Fatty Liver Disease The G allele in PNPLA3 rs738409 increases the risk of NAFLD in the general popul... BeFree 24417250 Detail
0.265 Non-alcoholic Fatty Liver Disease A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like ... BeFree 23176674 Detail
0.002 hepatitis C Donor PNPLA3 rs738409 genotype affects fibrosis progression in liver transplanta... BeFree 24123231 Detail
0.003 Hepatitis C, Chronic The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated... BeFree 25801076 Detail
<0.001 Hepatitis C, Chronic Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
0.163 Fatty Liver Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domai... BeFree 23418085 Detail
0.006 liver carcinoma PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of... BeFree 21745286 Detail
0.127 Liver Cirrhosis, Alcoholic Genotype PNPLA3 rs738409(GG) is associated with alcoholic liver cirrhosis and el... BeFree 21254164 Detail
0.005 Cirrhosis The rs738409 PNPLA3 genotype influences steatosis development in CHC and is inde... BeFree 21319195 Detail
0.127 Alcoholic Liver Diseases The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase ... BeFree 22869157 Detail
<0.001 Obesity, Visceral The lack of a relationship with visceral obesity and the inverse correlation wit... BeFree 20826584 Detail
0.009 Steatohepatitis A single genetic variant, PNPLA3 I148M, has been widely associated with increase... BeFree 22978414 Detail
0.002 hepatitis C PNPLA3 rs738409 causes steatosis according to viral & IL28B genotypes in hepatit... BeFree 24927606 Detail
0.030 obesity PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjec... BeFree 25801076 Detail
0.001 Malignant neoplasm of liver The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
0.007 Overweight Associations of I148M variant in PNPLA3 gene with plasma ALT levels during 2-yea... BeFree 24916969 Detail
0.163 Fatty Liver Moreover, we genotyped the same patients for the patatin-like phospholipase-cont... BeFree 25250621 Detail
0.006 liver carcinoma In particular, the common I148M variant of the PNPLA3 gene influencing hepatic l... BeFree 25278690 Detail
0.265 Non-alcoholic Fatty Liver Disease PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic ... BeFree 26136587 Detail
0.127 Liver Cirrhosis, Alcoholic PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol cons... BeFree 24102786 Detail
0.163 Fatty Liver In this study, we show that only in subjects with hepatic steatosis, the OXFAs a... BeFree 23815500 Detail
0.127 Liver Cirrhosis, Alcoholic The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
0.265 Non-alcoholic Fatty Liver Disease The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated... BeFree 25801076 Detail
0.006 liver carcinoma The rs738409 PNPLA3 genotype influences steatosis development in CHC and is inde... BeFree 21319195 Detail
0.009 Steatohepatitis No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.008 Liver diseases A variant (rs738409 C&gt;G, encoding for p.I148M) in the PNPLA3 gene is associat... BeFree 24114809 Detail
0.082 Non-alcoholic Fatty Liver Disease The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... BeFree 23269818 Detail
0.005 Cirrhosis The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. BeFree 25378656 Detail
0.265 Non-alcoholic Fatty Liver Disease Obesity is associated with non-alcoholic fatty liver disease (NAFLD), and the pa... BeFree 25939720 Detail
0.265 Non-alcoholic Fatty Liver Disease In this study, we investigated the interactions of PNPLA3 rs738409 with a broad ... BeFree 23418085 Detail
0.265 Non-alcoholic Fatty Liver Disease Meta-analysis of the influence of I148M variant of patatin-like phospholipase do... BeFree 21381068 Detail
0.008 Liver diseases PNPLA3 I148M polymorphism and progressive liver disease. BeFree 24222941 Detail
0.009 Steatohepatitis Carriage of the PNPLA3 rs738409 C &gt;G polymorphism is not only associated with... BeFree 24607626 Detail
0.265 Non-alcoholic Fatty Liver Disease Recently, a sequence variation within the gene encoding for patatin-like phospho... BeFree 22884299 Detail
0.265 Non-alcoholic Fatty Liver Disease The PNPLA3 I148M polymorphism is associated with insulin resistance and nonalcoh... BeFree 21745282 Detail
0.009 Steatohepatitis Modern noninvasive liver graft assessment frequently detects hepatic steatosis, ... BeFree 25429378 Detail
<0.001 gestational diabetes Isoleucine-to-methionine substitution at residue 148 variant of PNPLA3 gene and ... BeFree 25646328 Detail
0.030 obesity PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcin... BeFree 22704398 Detail
0.008 Liver diseases The rs738409 genetic variant in the patatin-like phospholipase domain-containing... BeFree 23333103 Detail
0.005 Cirrhosis The population attributable risk of cirrhosis in alcoholic carriers of allele PN... BeFree 21254164 Detail
0.265 Non-alcoholic Fatty Liver Disease The aim of the study was to determine whether increased adipocyte size is associ... BeFree 23913731 Detail
0.008 liver cirrhosis Previous studies of the PNPLA3 I148M sequence variant in HCV infected individual... BeFree 22978414 Detail
0.007 Overweight Association of the I148M/PNPLA3 variant with elevated alanine transaminase level... BeFree 23510779 Detail
0.163 Fatty Liver A recent genome-wide association study identified genetic polymorphism (rs738409... BeFree 21334404 Detail
<0.001 Steatohepatitis In this study, we show that only in subjects with hepatic steatosis, the OXFAs a... BeFree 23815500 Detail
<0.001 Non-alcoholic Fatty Liver Disease 'PNPLA3 NAFLD' is associated with a relative deficiency of TAGs, supporting the ... BeFree 24009255 Detail
0.008 Liver diseases This study was conducted to determine whether PNPLA3 rs738409 SNPs affect develo... BeFree 22869157 Detail
0.265 Non-alcoholic Fatty Liver Disease Expression and characterization of a PNPLA3 protein isoform (I148M) associated w... BeFree 21878620 Detail
0.030 obesity Our data show that the PNPLA3 gene I148M variant is associated with increased le... BeFree 20546964 Detail
0.002 Nonalcoholic Steatohepatitis They had lower serum lipid levels than noncarriers (P &lt; 0.05), had more-sever... BeFree 25251399 Detail
0.163 Fatty Liver Modern noninvasive liver graft assessment frequently detects hepatic steatosis, ... BeFree 25429378 Detail
0.009 Steatohepatitis Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domai... BeFree 23418085 Detail
0.127 Alcoholic Liver Diseases Recent genome-wide association studies have identified the variant p.I148M of th... BeFree 21168459 Detail
0.127 Alcoholic Liver Diseases In addition, the PNPLA3 single-nucleotide polymorphism rs738409 (M148I) was repo... BeFree 21254164 Detail
0.265 Non-alcoholic Fatty Liver Disease Genetic polymorphisms of the human PNPLA3 gene are strongly associated with seve... GWASCAT 22719876 Detail
0.265 Non-alcoholic Fatty Liver Disease [In comparisons with 1,405 healthy controls from the Myocardial Genetics Consort... GAD 21423719 Detail
0.003 Fatty Liver No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.009 Steatohepatitis When SNPs were examined individually, using logistic regression, we only identif... BeFree 23292069 Detail
0.265 Non-alcoholic Fatty Liver Disease PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic... BeFree 25624712 Detail
0.265 Non-alcoholic Fatty Liver Disease The PNPLA3 rs738409 C&gt;G polymorphism has been found to be strongly associated... BeFree 21745286 Detail
0.163 Fatty Liver A single genetic variant, PNPLA3 I148M, has been widely associated with increase... BeFree 22978414 Detail
<0.001 Hepatitis B, Chronic The impact of PNPLA3 (rs738409 C&gt;G) polymorphisms on liver histology and long... BeFree 25284145 Detail
0.265 Non-alcoholic Fatty Liver Disease A single nucleotide polymorphism (SNP) of the patatin-like phospholipase-3 (PNPL... BeFree 25646328 Detail
0.005 Cirrhosis PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction i... BeFree 23069476 Detail
0.030 obesity PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic ... BeFree 26136587 Detail
<0.001 Metabolic Diseases The lack of a relationship with visceral obesity and the inverse correlation wit... BeFree 20826584 Detail
0.006 liver carcinoma PNPLA3 genetic polymorphism (rs738409 C&gt;G) is associated with increased risk ... BeFree 25964223 Detail
0.127 Liver Cirrhosis, Alcoholic The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to p... BeFree 22276112 Detail
0.009 Steatohepatitis An isoleucine&gt;methionine mutation at position 148 in the PNPLA3 gene (p.I148M... BeFree 22087248 Detail
0.265 Non-alcoholic Fatty Liver Disease PNPLA3 polymorphisms (rs738409) and non-alcoholic fatty liver disease risk and r... BeFree 25641744 Detail
0.009 Steatohepatitis A recent genome-wide association study identified genetic polymorphism (rs738409... BeFree 21334404 Detail
0.163 Fatty Liver published the first genome wide association study and reported the strongest gen... BeFree 22093607 Detail
0.163 Fatty Liver The PNPLA3 I148M variant (rs738409) is robustly associated with hepatic steatosi... BeFree 19844213 Detail
0.265 Non-alcoholic Fatty Liver Disease Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver ... BeFree 25290313 Detail
0.127 Alcoholic Liver Diseases The PNPLA3 rs738409 C&gt;G polymorphism has been found to be strongly associated... BeFree 21745286 Detail
0.030 obesity The PNPLA3 rs738409 polymorphism is associated already in youths with increased ... BeFree 25939720 Detail
0.265 Non-alcoholic Fatty Liver Disease Circulating triacylglycerol signatures in nonalcoholic fatty liver disease assoc... BeFree 24009255 Detail
0.163 Fatty Liver CT-defined fatty liver is common among men at risk for HIV infection and is asso... BeFree 24642579 Detail
0.163 Fatty Liver Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
0.001 Chronic liver disease The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with ... BeFree 26219465 Detail
0.030 obesity PNPLA3 I148M polymorphism (rs738409) has been strongly associated with liver fat... BeFree 24916969 Detail
0.220 hepatitis C PNPLA3 rs738409 causes steatosis according to viral & IL28B genotypes in hepatit... BeFree 24927606 Detail
0.002 Steatohepatitis No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.006 liver carcinoma PNPLA3 I148M polymorphism, clinical presentation, and survival in patients with ... BeFree 24155878 Detail
0.005 Cirrhosis Previous studies of the PNPLA3 I148M sequence variant in HCV infected individual... BeFree 22978414 Detail
0.163 Fatty Liver Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with ... BeFree 25986529 Detail
0.003 Fatty Liver Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A in... BeFree 24828988 Detail
0.008 Liver diseases The human patatin-like phospholipase domain-containing-3 (PNPLA3) gene rs738409 ... BeFree 25378656 Detail
0.003 Fatty Liver Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the... BeFree 23808989 Detail
0.005 Cirrhosis The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
<0.001 Hepatitis B, Chronic Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in ... BeFree 23564580 Detail
0.001 Malignant neoplasm of liver In North African subjects, the PNPLA3 I148M variant apparently stimulates liver ... BeFree 24269995 Detail
0.265 Non-alcoholic Fatty Liver Disease The I148M variant of PNPLA3 reduces the response to docosahexaenoic acid in chil... BeFree 24074360 Detail
0.009 Steatohepatitis PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjec... BeFree 25801076 Detail
0.265 Non-alcoholic Fatty Liver Disease The I148M PNPLA3 variant is associated with adiponectin levels in patients with ... BeFree 22898488 Detail
0.127 Alcoholic Liver Diseases The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and... BeFree 23505555 Detail
0.004 Fibrosis, Liver The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of ... BeFree 25069572 Detail
0.127 Alcoholic Liver Diseases Several studies have reported an association between alcoholic liver cirrhosis (... BeFree 25060292 Detail
0.163 Fatty Liver Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in ... BeFree 23564580 Detail
<0.001 Alcoholic Liver Diseases The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and... BeFree 23505555 Detail
0.001 Malignant neoplasm of liver The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with ... BeFree 26219465 Detail
0.008 liver cirrhosis No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirr... BeFree 24349054 Detail
0.008 liver cirrhosis The population attributable risk of cirrhosis in alcoholic carriers of allele PN... BeFree 21254164 Detail
0.265 Non-alcoholic Fatty Liver Disease I148M patatin-like phospholipase domain-containing 3 gene variant and severity o... BeFree 20648474 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with ... BeFree 26219465 Detail
<0.001 Steatohepatitis Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A in... BeFree 24828988 Detail
0.007 Metabolic syndrome X The PNPLA3 rs738409 polymorphism is associated already in youths with increased ... BeFree 25939720 Detail
0.265 Non-alcoholic Fatty Liver Disease A recent genome-wide association study identified a genetic variant in the patat... BeFree 21488075 Detail
0.127 Alcoholic Liver Diseases Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identifie... BeFree 21893698 Detail
0.001 Malignant neoplasm of liver Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emer... BeFree 24222094 Detail
0.008 Liver diseases Various studies have established a strong link between the 148 isoleucine to met... BeFree 25624712 Detail
<0.001 Hepatocarcinogenesis Overall, these results suggest that rs738409 exerts a marked influence on hepato... BeFree 24114809 Detail
0.008 liver cirrhosis The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fi... BeFree 22719190 Detail
0.008 liver cirrhosis The rs738409 PNPLA3 genotype influences steatosis development in CHC and is inde... BeFree 21319195 Detail
0.002 hepatitis C The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcohol... BeFree 22087248 Detail
0.009 Steatohepatitis In this study, we show that only in subjects with hepatic steatosis, the OXFAs a... BeFree 23815500 Detail
0.005 Cirrhosis Overall, these results suggest that rs738409 exerts a marked influence on hepato... BeFree 24114809 Detail
0.007 Metabolic syndrome X First, we analyze the impact of demographic and ethnic characteristics of the PN... BeFree 25624712 Detail
0.030 obesity Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with... BeFree 21665509 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) AND NAFLD1 ClinVar Detail
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) AND not provided ClinVar Detail
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) AND Hepatic steatosis ClinVar Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase ... DisGeNET Detail
Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 ... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty... DisGeNET Detail
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty... DisGeNET Detail
Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M o... DisGeNET Detail
Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M o... DisGeNET Detail
Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis,... DisGeNET Detail
A genetic variant in PNPLA3 (PNPLA3(I148M)), a triacylglycerol (TAG) hydrolase, is a major risk fact... DisGeNET Detail
To develop an animal model of PNPLA3-induced fatty liver disease, we generated transgenic mice that ... DisGeNET Detail
The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. DisGeNET Detail
No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese pa... DisGeNET Detail
The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers susceptibility to he... DisGeNET Detail
The PNPLA3 I148M variant (rs738409) is robustly associated with hepatic steatosis. DisGeNET Detail
Association between the PNPLA3 (rs738409 C&gt;G) variant and hepatocellular carcinoma: Evidence from... DisGeNET Detail
Circulating triacylglycerol signatures in nonalcoholic fatty liver disease associated with the I148M... DisGeNET Detail
These findings suggest that the rs738409 polymorphism in PNPLA3 gene confers high cross-ethnicity ri... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
In North African subjects, the PNPLA3 I148M variant apparently stimulates liver cancer development w... DisGeNET Detail
In end-stage liver disease patients, we identified ALD to be predominantly affected by the PNPLA3 I1... DisGeNET Detail
The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with l... DisGeNET Detail
We aimed at studying the potential impact of the NAFLD-associated PNPLA3 rs738409 G-allele on NAFLD-... DisGeNET Detail
Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein... DisGeNET Detail
The lack of a relationship with visceral obesity and the inverse correlation with CIMT suggest that ... DisGeNET Detail
When SNPs were examined individually, using logistic regression, we only identified a single SNP (PN... DisGeNET Detail
In particular, the common I148M variant of the PNPLA3 gene influencing hepatic lipid metabolism infl... DisGeNET Detail
Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chroni... DisGeNET Detail
CT-defined fatty liver is common among men at risk for HIV infection and is associated with greater ... DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNP... DisGeNET Detail
Several studies have reported an association between the genetic variant rs738409 (G) in the PNPLA3 ... DisGeNET Detail
This study explicated symptoms in persons with NAFLD at higher risk of disease progression defined a... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and ci... DisGeNET Detail
Multivariate analysis indicated that PNPLA3 rs738409 G versus C allele remained an (independent) ris... DisGeNET Detail
Interaction between PNPLA3 I148M variant and age at infection in determining fibrosis progression in... DisGeNET Detail
Stepwise logistic regression analysis revealed that factors predictive of advanced liver fibrosis in... DisGeNET Detail
Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with h... DisGeNET Detail
We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically ... DisGeNET Detail
Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) genetic variant has been as... DisGeNET Detail
Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in pa... DisGeNET Detail
In comparisons with 1,405 healthy controls from the Myocardial Genetics Consortium (MIGen), we obser... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight a... DisGeNET Detail
PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic characteristics and... DisGeNET Detail
Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis,... DisGeNET Detail
Our aims were to develop a method to accurately predict non-alcoholic fatty liver disease (NAFLD) an... DisGeNET Detail
We have assessed whether the PNPLA3 rs738409 (I148M) polymorphism may also affect the resolution and... DisGeNET Detail
The common PNPLA3 (adiponutrin) variant, p.I148M, was identified as a genetic determinant of liver f... DisGeNET Detail
Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with obesity and type 2 ... DisGeNET Detail
PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C. DisGeNET Detail
Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in ch... DisGeNET Detail
The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with l... DisGeNET Detail
Our data show that the PNPLA3 gene I148M variant is associated with increased levels of ALT/AST in o... DisGeNET Detail
PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individ... DisGeNET Detail
Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mell... DisGeNET Detail
Inherited factors play a major role in the predisposition to nonalcoholic fatty liver disease (NAFLD... DisGeNET Detail
Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis,... DisGeNET Detail
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... DisGeNET Detail
We performed a systematic review of previous studies on the relationship between rs738409 of PNPLA3 ... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirr... DisGeNET Detail
Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with h... DisGeNET Detail
The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatty liver and healthy ... DisGeNET Detail
PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and h... DisGeNET Detail
Recently, a PNPLA3 gene variant (I148M) was strongly associated with NAFLD and higher ALT levels in ... DisGeNET Detail
PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease. DisGeNET Detail
Aim of this study was to evaluate whether the I148M PNPLA3 polymorphism influences serum adiponectin... DisGeNET Detail
In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with t... DisGeNET Detail
A single nucleotide polymorphism (SNP), the rs738409, in the patatin like phospholipase 3 gene (PNPL... DisGeNET Detail
A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts tri... DisGeNET Detail
Carriage of the PNPLA3 rs738409 C &gt;G polymorphism confers an increased risk of non-alcoholic fatt... DisGeNET Detail
Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. DisGeNET Detail
Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insul... DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
Systematic review with meta-analysis: the I148M variant of patatin-like phospholipase domain-contain... DisGeNET Detail
Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury... DisGeNET Detail
The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing pr... DisGeNET Detail
Recently, the rs738409 I148M patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphism ha... DisGeNET Detail
PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and h... DisGeNET Detail
Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insul... DisGeNET Detail
PNPLA3 rs738409 increased the OR of NAFLD by 1.622 (95% CI: 1.071, 2.457; P = 0.023) in subjects wit... DisGeNET Detail
Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with Liver Steatosis and ... DisGeNET Detail
PNPLA3 I148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese individuals [BMI (kg/m(... DisGeNET Detail
Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identified as a genetic deter... DisGeNET Detail
PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and h... DisGeNET Detail
The PNPLA3 (rs738409 C&gt;G) polymorphism favors steatosis and fibrosis progression in CHC. DisGeNET Detail
Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) genetic variant has been as... DisGeNET Detail
The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing pr... DisGeNET Detail
The common PNPLA3 (adiponutrin) variant p.I148M represents a major genetic driver of progression in ... DisGeNET Detail
Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoh... DisGeNET Detail
In CHB patients, the PNPLA3 I148M polymorphism influences susceptibility to steatosis and, in partic... DisGeNET Detail
Regarding the latter, a sequence variation within the gene coding for patatin-like phospholipase enc... DisGeNET Detail
PNPLA3 genetic polymorphism (rs738409 C&gt;G) is associated with increased risk for the entire spect... DisGeNET Detail
Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genet... DisGeNET Detail
The adiponutrin/PNPLA3 (patatin-like phospholipase domain-containing protein 3) variant I148M has re... DisGeNET Detail
The aim was to describe the different clinical presentations of non-alcoholic fatty liver disease on... DisGeNET Detail
Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with Liver Steatosis and ... DisGeNET Detail
Carriage of the PNPLA3 rs738409 C &gt;G polymorphism confers an increased risk of non-alcoholic fatt... DisGeNET Detail
The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with l... DisGeNET Detail
The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers susceptibility to he... DisGeNET Detail
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... DisGeNET Detail
The G-allele in position rs738409 of patatin-like phospholipase domain-containing protein 3 (PNPLA3)... DisGeNET Detail
Age and HOMA-IR were positive independent predictors of metabolic syndrome, while a negative indepen... DisGeNET Detail
The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with l... DisGeNET Detail
The G allele in PNPLA3 rs738409 increases the risk of NAFLD in the general population, especially in... DisGeNET Detail
A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain... DisGeNET Detail
Donor PNPLA3 rs738409 genotype affects fibrosis progression in liver transplantation for hepatitis C... DisGeNET Detail
The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated with the severity o... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein... DisGeNET Detail
PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and h... DisGeNET Detail
Genotype PNPLA3 rs738409(GG) is associated with alcoholic liver cirrhosis and elevated aminotransfer... DisGeNET Detail
The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated... DisGeNET Detail
The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing pr... DisGeNET Detail
The lack of a relationship with visceral obesity and the inverse correlation with CIMT suggest that ... DisGeNET Detail
A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis. DisGeNET Detail
PNPLA3 rs738409 causes steatosis according to viral & IL28B genotypes in hepatitis C. DisGeNET Detail
PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C. DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
Associations of I148M variant in PNPLA3 gene with plasma ALT levels during 2-year follow-up in norma... DisGeNET Detail
Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNP... DisGeNET Detail
In particular, the common I148M variant of the PNPLA3 gene influencing hepatic lipid metabolism infl... DisGeNET Detail
PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease ... DisGeNET Detail
PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol consumption are independ... DisGeNET Detail
In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with t... DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated with the severity o... DisGeNET Detail
The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
A variant (rs738409 C&gt;G, encoding for p.I148M) in the PNPLA3 gene is associated with liver damage... DisGeNET Detail
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... DisGeNET Detail
The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. DisGeNET Detail
Obesity is associated with non-alcoholic fatty liver disease (NAFLD), and the patatin-like phospholi... DisGeNET Detail
In this study, we investigated the interactions of PNPLA3 rs738409 with a broad panel of metabolic a... DisGeNET Detail
Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 ge... DisGeNET Detail
PNPLA3 I148M polymorphism and progressive liver disease. DisGeNET Detail
Carriage of the PNPLA3 rs738409 C &gt;G polymorphism is not only associated with greater risk of pro... DisGeNET Detail
Recently, a sequence variation within the gene encoding for patatin-like phospholipase containing 3 ... DisGeNET Detail
The PNPLA3 I148M polymorphism is associated with insulin resistance and nonalcoholic fatty liver dis... DisGeNET Detail
Modern noninvasive liver graft assessment frequently detects hepatic steatosis, which is associated ... DisGeNET Detail
Isoleucine-to-methionine substitution at residue 148 variant of PNPLA3 gene and metabolic outcomes i... DisGeNET Detail
PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individ... DisGeNET Detail
The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponut... DisGeNET Detail
The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was... DisGeNET Detail
The aim of the study was to determine whether increased adipocyte size is associated with increased ... DisGeNET Detail
Previous studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an a... DisGeNET Detail
Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight a... DisGeNET Detail
A recent genome-wide association study identified genetic polymorphism (rs738409 C&gt;G) in the PNPL... DisGeNET Detail
In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with t... DisGeNET Detail
'PNPLA3 NAFLD' is associated with a relative deficiency of TAGs, supporting the idea that the I148M ... DisGeNET Detail
This study was conducted to determine whether PNPLA3 rs738409 SNPs affect development and prognosis ... DisGeNET Detail
Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fat... DisGeNET Detail
Our data show that the PNPLA3 gene I148M variant is associated with increased levels of ALT/AST in o... DisGeNET Detail
They had lower serum lipid levels than noncarriers (P &lt; 0.05), had more-severe steatosis, necroin... DisGeNET Detail
Modern noninvasive liver graft assessment frequently detects hepatic steatosis, which is associated ... DisGeNET Detail
Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein... DisGeNET Detail
Recent genome-wide association studies have identified the variant p.I148M of the adiponutrin gene P... DisGeNET Detail
In addition, the PNPLA3 single-nucleotide polymorphism rs738409 (M148I) was reported to be associate... DisGeNET Detail
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholi... DisGeNET Detail
[In comparisons with 1,405 healthy controls from the Myocardial Genetics Consortium (MIGen), we obse... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
When SNPs were examined individually, using logistic regression, we only identified a single SNP (PN... DisGeNET Detail
PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic characteristics and... DisGeNET Detail
The PNPLA3 rs738409 C&gt;G polymorphism has been found to be strongly associated with non-alcoholic ... DisGeNET Detail
A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis. DisGeNET Detail
The impact of PNPLA3 (rs738409 C&gt;G) polymorphisms on liver histology and long-term clinical outco... DisGeNET Detail
A single nucleotide polymorphism (SNP) of the patatin-like phospholipase-3 (PNPLA3)/adiponutrin gene... DisGeNET Detail
PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirr... DisGeNET Detail
PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease ... DisGeNET Detail
The lack of a relationship with visceral obesity and the inverse correlation with CIMT suggest that ... DisGeNET Detail
PNPLA3 genetic polymorphism (rs738409 C&gt;G) is associated with increased risk for the entire spect... DisGeNET Detail
The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to point to a common pat... DisGeNET Detail
An isoleucine&gt;methionine mutation at position 148 in the PNPLA3 gene (p.I148M, rs738409) has rece... DisGeNET Detail
PNPLA3 polymorphisms (rs738409) and non-alcoholic fatty liver disease risk and related phenotypes: a... DisGeNET Detail
A recent genome-wide association study identified genetic polymorphism (rs738409 C&gt;G) in the PNPL... DisGeNET Detail
published the first genome wide association study and reported the strongest genetic signal for the ... DisGeNET Detail
The PNPLA3 I148M variant (rs738409) is robustly associated with hepatic steatosis. DisGeNET Detail
Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur... DisGeNET Detail
The PNPLA3 rs738409 C&gt;G polymorphism has been found to be strongly associated with non-alcoholic ... DisGeNET Detail
The PNPLA3 rs738409 polymorphism is associated already in youths with increased ALT, and is more fre... DisGeNET Detail
Circulating triacylglycerol signatures in nonalcoholic fatty liver disease associated with the I148M... DisGeNET Detail
CT-defined fatty liver is common among men at risk for HIV infection and is associated with greater ... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of... DisGeNET Detail
PNPLA3 I148M polymorphism (rs738409) has been strongly associated with liver fat content and plasma ... DisGeNET Detail
PNPLA3 rs738409 causes steatosis according to viral & IL28B genotypes in hepatitis C. DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
PNPLA3 I148M polymorphism, clinical presentation, and survival in patients with hepatocellular carci... DisGeNET Detail
Previous studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an a... DisGeNET Detail
Patatin-Like Phospholipase Domain-Containing 3 I148M Variant Is Associated with Liver Steatosis and ... DisGeNET Detail
Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insul... DisGeNET Detail
The human patatin-like phospholipase domain-containing-3 (PNPLA3) gene rs738409 C&gt;G polymorphism ... DisGeNET Detail
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liv... DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chroni... DisGeNET Detail
In North African subjects, the PNPLA3 I148M variant apparently stimulates liver cancer development w... DisGeNET Detail
The I148M variant of PNPLA3 reduces the response to docosahexaenoic acid in children with non-alcoho... DisGeNET Detail
PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C. DisGeNET Detail
The I148M PNPLA3 variant is associated with adiponectin levels in patients with NAFLD and in healthy... DisGeNET Detail
The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver... DisGeNET Detail
The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced l... DisGeNET Detail
Several studies have reported an association between alcoholic liver cirrhosis (ALC) or other forms ... DisGeNET Detail
Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chroni... DisGeNET Detail
The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver... DisGeNET Detail
The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of... DisGeNET Detail
No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese pa... DisGeNET Detail
The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was... DisGeNET Detail
I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoh... DisGeNET Detail
The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of... DisGeNET Detail
Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insul... DisGeNET Detail
The PNPLA3 rs738409 polymorphism is associated already in youths with increased ALT, and is more fre... DisGeNET Detail
A recent genome-wide association study identified a genetic variant in the patatin-like phospholipas... DisGeNET Detail
Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identified as a genetic deter... DisGeNET Detail
Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genet... DisGeNET Detail
Various studies have established a strong link between the 148 isoleucine to methionine protein vari... DisGeNET Detail
Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in pa... DisGeNET Detail
The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and ci... DisGeNET Detail
The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated... DisGeNET Detail
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but sho... DisGeNET Detail
In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with t... DisGeNET Detail
Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in pa... DisGeNET Detail
First, we analyze the impact of demographic and ethnic characteristics of the PNPLA3 I148M variant a... DisGeNET Detail
Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with obesity and type 2 ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs738409 dbSNP
Genome
hg38
Position
chr22:43,928,847-43,928,847
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1052
Mean of sample read depth (HGVD)
144.42
Standard deviation of sample read depth (HGVD)
67.59
Number of reference allele (HGVD)
1153
Number of alternative allele (HGVD)
950
Allele Frequency (HGVD)
0.45173561578697097
Gene Symbol (HGVD)
PNPLA3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs738409
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4597
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7704
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
3273
East Asian Heterozygous Counts (ExAC)
1971
East Asian Homozygous Counts (ExAC)
651
East Asian Allele Frequency (ExAC)
0.3784690101757632
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
31954
Heterozygous Counts in All Race (ExAC)
21760
Homozygous Counts in All Race (ExAC)
5097
Allele Frequency in All Race (ExAC)
0.2632428780913779
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