rs751141

This is a variant in the EPHX2 gene that changes a arginine to an glutamine.

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GWAS Catalog Trait Associations (3)

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

X-24309 measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele A

OR 0.47

p 7.0e-80

N 8,809

Large GWAS

European

protein measurement

Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)

Allele A

OR —

p 1.0e-13

N 241

Small GWAS

European

metabolite measurement

Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)

Allele G

OR 0.81

p 5.0e-10

N 243

Small GWAS

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ClinVar annotation

Risk Factor

1 submitter6 publications

Hypercholesterolemia, familial, 1

View on ClinVar →

About EPHX2

This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]