rs2682567

This is a upstream gene variant variant in the ETHE1 gene.

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GWAS Catalog Trait Associations (1)

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

Ly6/PLAUR domain-containing protein 3 measurement

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)

Allele C

OR 0.32

p 5.0e-8

N 488

Small GWAS

European

About ETHE1

This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

View all ETHE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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