rs5104

This is a variant in the APOA4 gene that changes a serine to an asparagine.

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GWAS Catalog Trait Associations (1)

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

triglyceride measurement

Sohail M et al. “Mexican Biobank advances population and medical genomics of diverse ancestries.” Nature 622(7984):775-783 (2023)

Allele C

OR 0.15

p 7.0e-13

N 4,483

Large GWAS

Hispanic or Latin American

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

View on ClinVar →

About APOA4

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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