rs56413992

This variant is located in the CYP4V2 gene.

▶

GWAS Catalog Trait Associations (1)

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

plasma kallikrein measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele T

OR 0.25

p 1.0e-15

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

▶

ClinVar annotation

Benign★★★☆

3 submitters1 publication

Corneal dystrophy; Bietti crystalline corneoretinal dystrophy; not provided

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…