rs533617

This variant is located in the APOB gene.

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GWAS Catalog Trait Associations (16)

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

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.23

p 2.0e-316

N 354,097

Major Consortium StudyLarge GWAS

multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.16

p 1.0e-155

N 355,197

Major Consortium StudyLarge GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele C

OR 0.15

p 4.0e-37

N 94,674

Large GWAS

multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.13

p 1.0e-102

N 355,858

Major Consortium StudyLarge GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele C

OR 0.13

p 2.0e-30

N 94,674

Large GWAS

multi-ancestry

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.11

p 2.0e-67

N 355,577

Major Consortium StudyLarge GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele C

OR 0.11

p 2.0e-25

N 94,674

Large GWAS

multi-ancestry

triglyceride:HDL cholesterol ratio

DeForest N et al. “Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy.” Nature Communications 15(1):8068 (2024)

Allele C

OR 0.10

p 5.0e-67

N 382,129

Large GWAS

European, African unspecified, East Asian, Asian unspecified, NR, Other

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.09

p 2.0e-47

N 323,833

Major Consortium StudyLarge GWAS

multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.09

p 1.0e-43

N 325,634

Major Consortium StudyLarge GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele C

OR —

β 0.087

p 9.0e-20

N 94,674

Large GWAS

multi-ancestry

cholesterol to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele C

OR 0.06

p 4.0e-17

N 203,300

Large GWAS

European

cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.07

p 1.0e-13

N 136,016

Large GWAS

multi-ancestry

galectin-7 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.26

p 1.0e-13

N 10,708

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

16 submitters4 publications

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

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]

rs533617

GWAS Catalog Trait Associations (16)

apolipoprotein B measurement

low density lipoprotein cholesterol measurement

total cholesterol measurement

triglyceride measurement

triglyceride:HDL cholesterol ratio

apolipoprotein A 1 measurement

high density lipoprotein cholesterol measurement

cholesterol to total lipids in very large HDL percentage

cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement

galectin-7 measurement

ClinVar annotation

About APOB

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