rs1104859

This variant is located in the TNNT2 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 T

OR 0.03

p 8.0e-10

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 T

OR 0.04

p 2.0e-8

N 63,706

Major Consortium StudyLarge GWAS

European, NR

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ClinVar annotation

Benign★★★☆

5 submitters1 publication

not specified; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; not provided

View on ClinVar →

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]