rs138326449

This is a splice region variant variant in the APOC3 gene.

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GWAS Catalog Trait Associations (16)

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

high density lipoprotein cholesterol measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.73
p 5.0e-134
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele A
OR 0.98
p 3.0e-20
N 26,086
Major Consortium StudyLarge GWAS
European

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.37
p 4.0e-35
N 408,112
Large GWAS
European
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 0.30
p 1.0e-30
N 394,642
Large GWAS
European

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.44
p 3.0e-18
N 136,016
Large GWAS
multi-ancestry

low-density lipoprotein receptor measurement

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 0.55
p 4.0e-17
N 47,745
Large GWAS
European

amount of pro-neuropeptide Y (human) 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 0.52
p 2.0e-14
N 47,745
Large GWAS
European

level of CCN family member 1 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 0.55
p 6.0e-14
N 47,745
Large GWAS
European

triglyceride measurement, blood VLDL cholesterol amount

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele A
OR 1.10
p 3.0e-10
N 7,142
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
9 submitters12 publications

Apolipoprotein c-III deficiency; Cardiovascular phenotype; 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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