rs1138714
This is a upstream gene variant variant in the PNPLA2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Abnormality of the skeletal system
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 1.0e-14
N 394,642
Large GWAS
European
body mass index
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele A
OR 0.01
p 4.0e-14
N 650,000
Large GWAS
European
body fat distribution
Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)
Allele A
OR —
β 0.012
p 7.0e-11
N 116,138
Large GWAS
European
Fuchs endothelial corneal dystrophy
Gorman BR et al. “A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.” Communications Biology 7(1):418 (2024)
Allele G
OR 1.22
p 8.0e-14
N 258,564
Large GWAS
European
▶ClinVar annotation
About PNPLA2
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
View all PNPLA2 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…