rs651821

This is a regulatory region variant variant in the APOA5 gene.

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GWAS Catalog Trait Associations (43)

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

triglyceride measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.22
p —
N 111,667
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 T
OR 0.24
p 5.0e-181
N 94,674
Large GWAS
multi-ancestry
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 19.23
p 1.0e-300
N 58,701
Large GWAS
East Asian
Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele T
OR 21.70
p 1.0e-42
N 29,902
Large GWAS
European
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele T
OR 0.23
p 4.0e-42
N 10,241
Large GWAS
East Asian
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 T
OR 0.15
p 1.0e-64
N 6,949
Large GWAS
East Asian
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.07
p 1.0e-10
N 5,662
Large GWAS
South Asian
Zhou L et al. “A genome wide association study identifies common variants associated with lipid levels in the Chinese population.” Plos One 8(12):e82420 (2013)
Allele T
OR 0.17
p 2.0e-59
N 3,451
Large GWAS
East Asian
Kurano M et al. “Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.” Journal of Human Genetics 61(5):427-33 (2016)
Allele T
OR 0.32
p 1.0e-30
N 2,994
Large GWAS
East Asian
Zhu Y et al. “Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.” Journal of Cellular and Molecular Medicine 21(6):1106-1116 (2017)
Allele T
OR 0.08
p 2.0e-117
N 1,742
Large GWAS
East Asian

high density lipoprotein cholesterol measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.13
p 6.0e-293
N 390,103
Large GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.17
p 9.0e-260
N 146,492
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 T
OR —
β 0.092
p 2.0e-33
N 94,674
Large GWAS
multi-ancestry
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 2.66
p 3.0e-247
N 58,701
Large GWAS
East Asian
Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele T
OR 1.64
p 4.0e-12
N 29,902
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele T
OR 0.19
p 9.0e-47
N 25,169
Large GWAS
East Asian
Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)
Allele T
OR 0.23
p 2.0e-12
N 2,317
Large GWAS
East Asian
Nishida Y et al. “The interaction between ABCA1 polymorphism and physical activity on the HDL-cholesterol levels in a Japanese population.” Journal of Lipid Research 61(1):86-94 (2020)
Allele T
OR 0.06
p 7.0e-31
N 2,231
Large GWAS
East Asian
Zhu Y et al. “Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.” Journal of Cellular and Molecular Medicine 21(6):1106-1116 (2017)
Allele T
OR 0.07
p 6.0e-48
N 1,742
Large GWAS
East Asian

Hypertriglyceridemia

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 T
OR 1.90
p 5.0e-228
N 50,808
Large GWAS
East Asian

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.12
p 6.0e-117
N 146,492
Large GWAS
East Asian

metabolic syndrome

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 T
OR 1.40
p 3.0e-64
N 50,808
Large GWAS
East Asian
Park JM et al. “Understanding the genetic architecture of the metabolically unhealthy normal weight and metabolically healthy obese phenotypes in a Korean population.” Scientific Reports 11(1):2279 (2021)
Allele T
OR 1.43
p 9.0e-44
N 16,091
Large GWAS
East Asian
Zhu Y et al. “Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.” Journal of Cellular and Molecular Medicine 21(6):1106-1116 (2017)
Allele T
OR 1.28
p 4.0e-17
N 1,742
Large GWAS
East Asian

mean corpuscular hemoglobin concentration

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 1.0e-25
N 485,950
Large GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.03
p 2.0e-12
N 126,151
Large GWAS
East Asian

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.07
p 7.0e-13
N 547,261
Large GWAS
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ClinVar annotation

Benign★☆☆☆
5 submitters1 publication

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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