rs58275387

This is a regulatory region variant variant in the GABRG3 gene.

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GWAS Catalog Trait Associations (1)

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

Dodecanedioic aicd measurement

Wang Z et al. “Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci.” Clinical and Translational Medicine 11(2):e290 (2021)
Allele T
OR 0.34
p 3.0e-10
N 1,551
Large GWAS
East Asian

About GABRG3

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

View all GABRG3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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