rs2281293

This is a intron variant variant in the PNPLA3 gene.

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GWAS Catalog Trait Associations (2)

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

triglyceride measurement

Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)

Allele A

OR 0.04

p 4.0e-13

N 5,662

Large GWAS

South Asian

uric acid measurement

Nakatochi M et al. “Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.” Communications Biology 2:115 (2019)

Allele T

OR 0.02

p 5.0e-9

N 121,745

Meta-analysisLarge GWAS

multi-ancestry

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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