rs56132765
This variant is located in the ABCG8 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cholesterol in very small VLDL measurement
esterified cholesterol measurement, blood VLDL cholesterol amount
linoleic acid measurement
total lipids in very small VLDL measurement
omega-6 polyunsaturated fatty acid measurement
polyunsaturated fatty acid measurement
cholesteryl esters in medium VLDL measurement
choline measurement
▶ClinVar annotation
Sitosterolemia 1; not specified; not provided; Cardiovascular phenotype; ABCG8-related disorder
View on ClinVar →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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