rs4245791

This is a intron variant variant in the ABCG8 gene.

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GWAS Catalog Trait Associations (58)

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

low density lipoprotein cholesterol measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele T
OR 0.06
p 6.0e-94
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 1.0e-39
N 578,955
Major Consortium StudyLarge GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 6.0e-40
N 136,016
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 0.08
p 3.0e-30
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele T
OR 0.07
p 2.0e-27
N 60,405
Large GWAS
Hispanic or Latin American

Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 8.0e-59
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

phytosterol measurement

Teupser D et al. “Genetic regulation of serum phytosterol levels and risk of coronary artery disease.” Circulation. Cardiovascular Genetics 3(4):331-9 (2010)
Allele C
OR 12.00
p 2.0e-50
N 1,495
Large GWAS
European

total cholesterol in large LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 5.0e-43
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters in large LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 1.0e-42
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 2.0e-42
N 136,016
Large GWAS
multi-ancestry

free cholesterol in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 7.0e-42
N 136,016
Large GWAS
multi-ancestry

total lipids in large LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 4.0e-41
N 136,016
Large GWAS
multi-ancestry

free cholesterol in small LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 6.0e-41
N 136,016
Large GWAS
multi-ancestry

total cholesterol in small LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 1.0e-40
N 136,016
Large GWAS
multi-ancestry

About ABCG8

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

View all ABCG8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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