rs2117079

This variant is located in the AGBL1 gene.

GWAS Catalog Trait Associations (1)

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

gut microbiome measurement, tobacco smoke exposure measurement

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 A
OR 0.02
p 9.0e-10
N 688
Small GWAS
multi-ancestry

About AGBL1

Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

View all AGBL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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