rs6756629

This is a protein-altering variant in the ABCG5 gene.

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GWAS Catalog Trait Associations (7)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 3.0e-25
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

total cholesterol measurement

Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR 0.15
p 2.0e-11
N 22,562
Large GWAS
European

low density lipoprotein cholesterol measurement

Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR 0.16
p 3.0e-10
N 17,797
Large GWAS
European

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 0.08
p 1.0e-25
N 136,016
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
10 submitters2 publications

ABCG5-related disorder; Cardiovascular phenotype; Sitosterolemia (STSL); Sitosterolemia 1; not specified

View on ClinVar →

About ABCG5

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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

View all ABCG5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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