rs2294919

This variant is located in the PNPLA3 gene.

▶

GWAS Catalog Trait Associations (2)

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

metabolite measurement, diet measurement

Dong X et al. “Unprocessed Red Meat and Processed Meat Consumption, Plasma Metabolome, and Risk of Ischemic Heart Disease: A Prospective Cohort Study of UK Biobank.” Journal of the American Heart Association 12(7):e027934 (2023)

Allele T

OR —

β 0.035

p 3.0e-15

N 92,246

Major Consortium StudyLarge GWAS

European

docosahexaenoic acid measurement, fatty acid amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.03

p 6.0e-9

N 115,006

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

NAFLD1; not provided

View on ClinVar →

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]