rs532291947

This variant is located in the CYP4V2 gene.

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GWAS Catalog Trait Associations (1)

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

level of Toll-like receptor 3 in blood

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

Allele C

OR 0.33

p 3.0e-13

N 47,745

Large GWAS

European

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Bietti crystalline corneoretinal dystrophy; Corneal dystrophy

View on ClinVar →

About CYP4V2

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

View all CYP4V2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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