rs4472440

This variant is located in the CALD1 gene.

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GWAS Catalog Trait Associations (2)

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

Hernia

Ahmed WU et al. “Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.” Plos One 17(12):e0272261 (2022)
Allele C
OR —
p 2.0e-20
N 344,508
Meta-analysisLarge GWAS
European

Umbilical hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele G
OR 1.14
p 2.0e-8
N 275,546
Major Consortium StudyLarge GWAS
European

About CALD1

This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

View all CALD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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