rs12593021

This is a intron 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.

gut microbiome measurement, breastfeeding duration

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele T
OR —
β 0.030
p 1.0e-8
N 688
Small GWAS
multi-ancestry

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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