rs2270552

This variant is located in the VCL gene.

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GWAS Catalog Trait Associations (1)

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

cardiac troponin I measurement

Moksnes MR et al. “Genome-wide association study of cardiac troponin I in the general population.” Human Molecular Genetics 30(21):2027-2039 (2021)

Allele T

OR 0.06

p 3.0e-19

N 48,115

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About VCL

Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

View all VCL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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