rs7312625

This variant is located in the TBX5 gene.

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GWAS Catalog Trait Associations (4)

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

atrial fibrillation

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.08
p 4.0e-30
N 622,007
Major Consortium StudyLarge GWAS
multi-ancestry

P wave duration

Christophersen IE et al. “Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.” Circulation. Cardiovascular Genetics 10(4) (2017)
Allele G
OR 0.80
p 2.0e-18
N 44,456
Large GWAS
multi-ancestry

cardiac arrhythmia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 4.0e-15
N 557,567
Major Consortium StudyLarge GWAS
multi-ancestry

PR interval

Smith JG et al. “Genome-wide association studies of the PR interval in African Americans.” Plos Genetics 7(2):e1001304 (2011)
Allele A
OR 3.23
p 7.0e-9
N 6,247
Large GWAS
African American or Afro-Caribbean

About TBX5

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

View all TBX5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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