rs11057839

This is a intron variant variant in the SCARB1 gene.

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GWAS Catalog Trait Associations (2)

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

non-high density lipoprotein cholesterol measurement

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 0.03

p 2.0e-28

N 1,320,016

Large GWAS

European

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele T

OR —

p 8.0e-11

N 630,125

Large GWAS

multi-ancestry

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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