rs5888

This is a synonymous variant in the SCARB1 gene — it does not change the protein's amino acid sequence.

GWAS Catalog Trait Associations (3)

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

high density lipoprotein cholesterol measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele A
OR 0.03
p 6.0e-26
N 361,194
Large GWAS
European

triglycerides in very large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-11
N 136,016
Large GWAS
multi-ancestry

ClinVar annotation

Benign★★★
4 submitters2 publications

SCARB1-related disorder

View on ClinVar →

About SCARB1

The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2. [provided by RefSeq, Oct 2021]

View all SCARB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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