rs2469184
This is a intron variant variant in the AGBL1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood coagulation trait
Tang W et al. “Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.” American Journal of Human Genetics 91(1):152-62 (2012)
Allele A
OR 0.16
p 4.0e-8
N 9,240
Large GWAS
European
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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