rs4731

This variant is located in the FDFT1 gene.

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GWAS Catalog Trait Associations (1)

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

Lewy body dementia

Guo P et al. “Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis.” Bmc Medicine 20(1):214 (2022)

Allele G

OR 5.54

p 3.0e-8

N 6,618

Large GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters1 publication

FDFT1-related disorder; not provided; Squalene synthase deficiency; Cholangiocarcinoma; Adrenocortical carcinoma, hereditary; Uveal melanoma; Thymoma; Uterine corpus endometrial carcinoma; Colorectal cancer

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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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