rs72473930
This variant is located in the EPHX2 gene.
▶ClinVar annotation
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]
View all EPHX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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