rs12251332
This is a intron variant variant in the CTNNA3 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.
pyroglutamine measurement
Bing Yu et al. “Genome‐Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study” Genetic Epidemiology (2013)
Allele C
OR 0.17
p 5.0e-8
N 1,260
CohortLarge GWAS
African American or Afro-Caribbean
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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