rs1367117

This is a variant in the APOB gene that changes a threonine to an isoleucine.

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GWAS Catalog Trait Associations (23)

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 0.08
p 4.0e-247
N 416,487
Large GWAS
multi-ancestry
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 A
OR 0.12
p 2.0e-179
N 205,367
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele A
OR 3.08
p 3.0e-64
N 125,692
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele A
OR 4.05
p 4.0e-114
N 95,454
Large GWAS
European
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 0.12
p 7.0e-125
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR 0.12
p 1.0e-182
N 94,595
Large GWAS
European

total cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR 0.10
p 3.0e-139
N 94,595
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 A
OR 0.10
p 3.0e-136
N 219,941
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele A
OR 4.16
p 4.0e-96
N 100,184
Large GWAS
European
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 0.11
p 5.0e-109
N 94,674
Large GWAS
multi-ancestry

total lipids in large HDL

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 0.04
p 2.0e-100
N 450,015
Large GWAS
multi-ancestry

cholesterol 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 2.0e-98
N 136,016
Large GWAS
multi-ancestry

esterified cholesterol measurement, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.08
p 4.0e-88
N 136,016
Large GWAS
multi-ancestry

triglycerides to total lipids in very large VLDL percentage

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 0.04
p 8.0e-80
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in very small VLDL percentage

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 0.04
p 4.0e-79
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.05
p 3.0e-22
N 88,329
Large GWAS
European

free cholesterol to total lipids in very large VLDL percentage

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 0.04
p 5.0e-75
N 450,015
Large GWAS
multi-ancestry

HMG CoA reductase inhibitor use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.11
p 9.0e-72
N 290,385
Major Consortium StudyLarge GWAS
European

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

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.06
p 3.0e-42
N 136,016
Large GWAS
multi-ancestry
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ClinVar annotation

Drug Response★★★☆
19 submitters2 publications

Cardiovascular phenotype; Familial hypercholesterolemia; Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, type B (FHCL2); Hypercholesterolemia, familial, 1; Warfarin response; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease
AssociationN=856Xu Zhang et al.(2015)· Human Genetics

This GWAS meta-analysis of 856 sickle cell disease (SCD) adults identified rs59014890 in APOB as associated with diabetes risk (P=3.2×10−8, OR=17-18), where the C allele paradoxically decreased APOB expression in peripheral blood mononuclear cells but increased diabetes risk. The association was validated in adolescent SCD patients for overweight status and in African Americans ≥45 years with BMI >25 kg/m² for diabetes risk, demonstrating a gene-by-environment interaction. Lower APOB expression also correlated with elevated hemoglobin A1C and serum lipids in Chuvash polycythemia patients.

Traits studied:Hemoglobin A1COverweight/obesityPlasma lipid concentrationsSickle cell diseaseTotal cholesterolTriglyceridesType 2 diabetes mellitus
PubMedDOIMetascience Observatory

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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