rs114938914
This variant is located in the ABCG5 gene.
▶GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol:total lipids ratio, blood VLDL cholesterol amount
triglycerides:total lipids ratio, blood VLDL cholesterol amount
cholesterol:total lipids ratio, blood VLDL cholesterol amount
free cholesterol measurement, high density lipoprotein cholesterol measurement
free cholesterol to total lipids in small HDL percentage
triglycerides to total lipids in medium VLDL percentage
high density lipoprotein cholesterol measurement
cholesterol to total lipids in medium VLDL percentage
total cholesterol measurement, high density lipoprotein cholesterol measurement
cholesteryl ester measurement, high density lipoprotein cholesterol measurement
▶ClinVar annotation
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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