rs10519694

This is a intron variant variant in the LOX gene.

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GWAS Catalog Trait Associations (2)

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

Inguinal hernia

Choquet H et al. “Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.” Human Molecular Genetics 31(13):2279-2293 (2022)
Allele T
OR 1.07
p 2.0e-11
N 228,873
Meta-analysisLarge GWAS
multi-ancestry

About LOX

This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]

View all LOX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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