rs12721041

This variant is located in the APOA4 gene.

GWAS Catalog Trait Associations (14)

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 T
OR 0.19
p 2.0e-91
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.19
p 5.0e-81
N 361,194
Large GWAS
European

apolipoprotein B 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 T
OR 0.10
p 6.0e-27
N 354,097
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 T
OR 0.09
p 4.0e-20
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.09
p 2.0e-18
N 361,194
Large GWAS
European

total 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 T
OR 0.09
p 9.0e-20
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

low 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 T
OR 0.09
p 2.0e-19
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

fatty acid amount

Allele T
OR
p 3.0e-27
N 128,922
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters2 publications

not provided; APOA4-related disorder

View on ClinVar →

About APOA4

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]

View all APOA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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