rs3825214

This variant is located in the TBX5 gene.

▶

GWAS Catalog Trait Associations (3)

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

QRS duration

Prins BP et al. “Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.” Genome Biology 19(1):87 (2018)
Allele G
OR 0.50
p 8.0e-36
N 85,593
Meta-analysisLarge GWAS
multi-ancestry

QRS complex

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele G
OR 7.35
p 3.0e-13
N 12,670
Large GWAS
European

PR interval

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele G
OR 7.36
p 3.0e-12
N 12,670
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies
AssociationN=1,369Marilyn L. Browne et al.(2012)· American Journal of Medical Genetics Part A

Population-based case-control study of 389 infants with congenital limb deficiencies and 980 controls examining 132 SNPs in 20 candidate genes involved in limb development, angiogenesis, and coagulation. Among non-Hispanic white infants, SNPs in FGF10 (rs10805683: OR=1.99, 95% CI=1.43-2.77; rs13170645: OR=2.37, 95% CI=1.48-3.78) showed significant associations with limb deficiencies after multiple testing correction, with supportive evidence for genes including EN1, WNT7A, CYP26B1, SHH, and TBX5.

Traits studied:Congenital limb deficienciesIntercalary limb deficienciesLongitudinal limb deficienciesTransverse limb deficiencies
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…