rs147210663

This is a variant in the APOC3 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (3)

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

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.57
p 3.0e-22
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.42
p 7.0e-12
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.37
p 1.0e-9
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★☆☆☆
6 submitters8 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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