rs738408
This is a synonymous variant in the PNPLA3 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (113)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (113)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)
Allele T
OR 0.27
p 4.0e-273
N 218,595
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 1.0e-32
N 115,132
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
non-alcoholic fatty liver disease
Chen Y et al. “Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.” Nature Genetics 55(10):1640-1650 (2023)
Allele T
OR 35.21
p 2.0e-271
N 691,479
Meta-analysisLarge GWAS
South Asian, European, African American or Afro-Caribbean, East Asian, Hispanic or Latin American
cirrhosis of liver
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele T
OR 0.46
p 1.0e-270
N 1,580,011
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.32
p 8.0e-164
N 626,711
Major Consortium StudyLarge GWAS
multi-ancestry
Chen VL et al. “Genetic variants that associate with cirrhosis have pleiotropic effects on human traits.” Liver International : Official Journal of the International Association for the Study of the Liver 40(2):405-415 (2020)
Allele T
OR 0.47
p 7.0e-18
N 408,961
Large GWAS
European
liver fat measurement
Ahmed A et al. “MRI-Based Genetic Studies Reveal Specific Genetic Variants and Disease Risks Associated With Fat Distribution Across Anatomical Sites.” Journal of Obesity 2025:7792701 (2025)
Allele T
OR 0.23
p 9.0e-139
N 37,589
Large GWAS
European
Ahmad S et al. “Impact of genetic variants linked to liver fat and liver volume on MRI-mapped body composition.” Jhep Reports : Innovation in Hepatology 7(9):101468 (2025)
Allele T
OR 0.19
p 3.0e-78
N 27,243
Large GWAS
European
total lipids in IDL
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 1.0e-105
N 450,015
Large GWAS
multi-ancestry
portal hypertension
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.52
p 2.0e-93
N 629,612
Major Consortium StudyLarge GWAS
multi-ancestry
hepatocellular carcinoma
Ghouse J et al. “Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development.” Jhep Reports : Innovation in Hepatology 7(9):101485 (2025)
Allele T
OR 0.55
p 3.0e-93
N 1,865,284
Meta-analysisLarge GWAS
European
aspartate aminotransferase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 3.0e-87
N 150,068
Large GWAS
East Asian
LDL particle size
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.04
p 4.0e-77
N 450,015
Large GWAS
multi-ancestry
level of argininosuccinate synthase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 2.0e-69
N 47,745
Large GWAS
European
▶ClinVar annotation
About PNPLA3
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
View all PNPLA3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…