rs13306206

This variant is located in the APOB gene.

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GWAS Catalog Trait Associations (7)

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

low 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 A
OR 0.32
p 7.0e-124
N 72,866
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 0.49
p 8.0e-123
N 288,127
Large GWAS
East Asian
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele A
OR 14.75
p 2.0e-59
N 58,701
Large GWAS
East Asian

HMG CoA reductase inhibitor use measurement

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 0.64
p 3.0e-118
N 178,726
Large GWAS
East Asian

total 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 A
OR 0.23
p 5.0e-111
N 135,808
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 0.42
p 6.0e-93
N 288,127
Large GWAS
East Asian
Flanagan J et al. “Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.” Communications Biology 7(1):1665 (2024)
Allele A
OR 0.22
p 9.0e-83
N 181,927
Large GWAS
East Asian
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele A
OR 14.44
p 3.0e-47
N 58,701
Large GWAS
East Asian

Hypercholesterolemia

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 G
OR 2.40
p 1.0e-38
N 50,808
Large GWAS
East Asian

myocardial infarction

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 0.49
p 5.0e-33
N 623,029
Large GWAS
multi-ancestry

angina pectoris

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 0.32
p 5.0e-19
N 508,073
Large GWAS
multi-ancestry

Vasodilators used in cardiac diseases use measurement

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 0.22
p 4.0e-10
N 178,726
Large GWAS
East Asian
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ClinVar annotation

Conflicting Classifications
9 submitters2 publications

Hypercholesterolemia, familial, 1; Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1; not provided; Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1; Cardiovascular phenotype; Familial hypercholesterolemia; APOB-related disorder

View on ClinVar →

About APOB

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]

View all APOB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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