rs2789750

This variant is located in the TPM2 gene.

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GWAS Catalog Trait Associations (2)

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

repulsive guidance molecule A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.07

p 3.0e-39

N 47,745

Large GWAS

European

right ventricular ejection fraction measurement

Aung N et al. “Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.” Nature Genetics 54(6):783-791 (2022)

Allele C

OR 0.05

p 6.0e-9

N 29,488

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About TPM2

This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]