rs76353203

This is a stop gained variant in the APOC3 gene.

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GWAS Catalog Trait Associations (4)

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

triglyceride measurement

Southam L et al. “Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.” Nature Communications 8:15606 (2017)
Allele T
OR 1.07
p 7.0e-17
N 3,213
Large GWAS
European
Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele T
OR 1.16
p 7.0e-9
N 650
Small GWAS
European

level of diglyceride

Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele T
OR 1.22
p 2.0e-9
N 650
Small GWAS
European

level of phosphatidylethanolamine

Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele T
OR 1.29
p 1.0e-10
N 650
Small GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
9 submitters6 publications

Apolipoprotein c-III deficiency; Cardiovascular phenotype; Cholesterol-ester transfer protein deficiency; Coronary heart disease; not specified

View on ClinVar →

About APOC3

This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]

View all APOC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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