rs149808404

This variant is located in the APOA5 gene.

▶

GWAS Catalog Trait Associations (1)

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 0.83
p 4.0e-13
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
▶

ClinVar annotation

Conflicting Classifications
7 submitters7 publications

not provided; Familial type 5 hyperlipoproteinemia; Cardiovascular phenotype; Familial type 5 hyperlipoproteinemia;Hypertriglyceridemia 1; Hypertriglyceridemia 1

View on ClinVar →

About APOA5

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

View all APOA5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…