rs12564445

This is a regulatory region variant variant in the TNNT2 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 T measurement

Yu B et al. “Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.” Circulation. Cardiovascular Genetics 6(1):82-8 (2013)

Allele A

OR 2.33

p 5.0e-8

N 11,544

Meta-analysisCohortLarge GWAS

multi-ancestry

About TNNT2

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]

View all TNNT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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