rs12701220

This is a regulatory region variant variant in the CYP2W1 gene.

GWAS Catalog Trait Associations (14)

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

free cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 4.0e-18
N 136,016
Large GWAS
multi-ancestry

total lipids in IDL

Allele C
OR 0.04
p 4.0e-12
N 88,329
Large GWAS
European

About CYP2W1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]

View all CYP2W1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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