rs2252567

This is a regulatory region variant variant in the FDFT1 gene.

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GWAS Catalog Trait Associations (2)

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

mean reticulocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.01

p 1.0e-12

N 394,642

Large GWAS

European

high density lipoprotein cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)

Allele T

OR 0.02

p 2.0e-9

N 288,127

Large GWAS

East Asian

About FDFT1

This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]

View all FDFT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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