rs187017665

This is a intron variant variant in the CTNNA3 gene.

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GWAS Catalog Trait Associations (1)

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

esophageal disease

Gehlen J et al. “First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.” Hgg Advances 3(2):100093 (2022)

Allele A

OR 3.94

p 2.0e-8

N 6,542

Large GWAS

European

About CTNNA3

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

View all CTNNA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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