rs1041968

This variant is located in the APOB gene.

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GWAS Catalog Trait Associations (9)

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

low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.10
p 4.0e-124
N 136,016
Large GWAS
multi-ancestry

apolipoprotein B measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.09
p 3.0e-123
N 136,016
Large GWAS
multi-ancestry

blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.09
p 2.0e-122
N 136,016
Large GWAS
multi-ancestry

total lipids in very small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.09
p 6.0e-120
N 136,016
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 5.0e-27
N 241,027
Large GWAS
European

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.030
p 4.0e-15
N 94,674
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR 0.10
p 8.0e-105
N 94,674
Large GWAS
multi-ancestry

total cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.094
p 3.0e-94
N 94,674
Large GWAS
multi-ancestry
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele G
OR 0.10
p 5.0e-54
N 62,166
Large GWAS
European

triglyceride measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.051
p 1.0e-35
N 94,674
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
11 submitters2 publications

not specified; Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1; not provided; Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1; Familial hypercholesterolemia; Cardiovascular phenotype

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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