rs6565060

This is a intron variant variant in the CDH13 gene.

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GWAS Catalog Trait Associations (2)

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

QRS-T angle

Young WJ et al. “Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.” Nature Communications 14(1):1411 (2023)
Allele A
OR 0.07
p 2.0e-18
N 118,780
Large GWAS
European, African unspecified, Hispanic or Latin American

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele A
OR 0.07
p 7.0e-12
N 63,706
Major Consortium StudyLarge GWAS
European, NR

About CDH13

This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]

View all CDH13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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