rs2075291

This is a variant in the APOA5 gene that changes a glycine to an cysteine.

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GWAS Catalog Trait Associations (7)

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

triglyceride measurement

Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele A
OR 0.19
p 5.0e-36
N 6,949
Large GWAS
East Asian
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.33
p 4.0e-24
N 94,674
Large GWAS
multi-ancestry

HDL cholesterol change measurement

Tang CS et al. “Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.” Nature Communications 6:10206 (2015)
Allele A
OR 0.30
p 1.0e-29
N 12,685
Large GWAS
East Asian

high density lipoprotein cholesterol measurement

Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele A
OR 0.07
p 2.0e-28
N 6,949
Large GWAS
East Asian
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.27
p 1.0e-19
N 94,674
Large GWAS
multi-ancestry
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele A
OR 0.32
p 9.0e-15
N 22,000
Large GWAS
South Asian
Oh SW et al. “Genome-wide association study of metabolic syndrome in Korean populations.” Plos One 15(1):e0227357 (2020)
Allele A
OR 2.04
p 4.0e-8
N 2,253
Large GWAS
East Asian

low density lipoprotein cholesterol measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.06
p 2.0e-16
N 153,950
Large GWAS
East Asian
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.04
p 1.0e-11
N 288,127
Large GWAS
East Asian

platelet count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 3.0e-13
N 148,623
Large GWAS
East Asian

Decreased HDL cholesterol concentration

Kim YS et al. “Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.” International Journal of Molecular Sciences 23(19) (2022)
Allele C
OR 1.80
p 3.0e-62
N 19,595
Large GWAS
East Asian
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ClinVar annotation

Uncertain Significance★★★☆
7 submitters11 publications

Cardiovascular phenotype; Hypertriglyceridemia 1; not specified

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.

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