rs150770244
This variant is located in the PNPLA2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of transaldolase 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 0.44
p 9.0e-31
N 47,745
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
7 submitters2 publicationsnot specified; Neutral lipid storage myopathy; not provided
View on ClinVar →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.
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