rs3747207

This variant is located in the PNPLA3 gene.

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GWAS Catalog Trait Associations (116)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum alanine aminotransferase amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.08
p —
N 494,681
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.09
p 7.0e-177
N 153,950
Large GWAS
East Asian
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 A
OR 0.21
p 2.0e-21
N 37,364
Large GWAS
African American or Afro-Caribbean

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele G
OR 0.23
p 5.0e-128
N 122,644
Large GWAS
European
Fairfield CJ et al. “Genome-Wide Association Study of NAFLD Using Electronic Health Records.” Hepatology Communications 6(2):297-308 (2022)
Allele G
OR 1.45
p 2.0e-87
N 377,988
Large GWAS
European

alcoholic liver disease

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 G
OR 0.39
p 3.0e-101
N 446,313
Major Consortium StudyLarge GWAS
European

Liver abscess

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 G
OR 0.46
p 3.0e-87
N 447,708
Major Consortium StudyLarge GWAS
European

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 G
OR 0.57
p 3.0e-79
N 448,825
Major Consortium StudyLarge GWAS
European

liver disease

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 G
OR 0.37
p 4.0e-78
N 56,755
Major Consortium StudyLarge GWAS
Hispanic or Latin American

level of fucose mutarotase 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 A
OR 0.09
p 4.0e-45
N 47,745
Large GWAS
European

glutathione S-transferase A1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 7.0e-43
N 47,745
Large GWAS
European

formimidoyltransferase-cyclodeaminase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 1.0e-42
N 47,745
Large GWAS
European

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.

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