rs1130742

This variant is located in the APOC2 gene.

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GWAS Catalog Trait Associations (1)

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

PH and SEC7 domain-containing protein 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.490
p 5.0e-72
N 3,301
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Familial apolipoprotein C-II deficiency; not provided

View on ClinVar →

About APOC2

This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]

View all APOC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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