rs883079
This is a 3 prime utr variant variant in the TBX5 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
atrial fibrillation
Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.09
p 3.0e-145
N 2,584,013
Large GWAS
multi-ancestry
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele T
OR 0.10
p 8.0e-60
N 2,339,188
Large GWAS
multi-ancestry
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.11
p 1.0e-102
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 1.0e-38
N 1,486,094
Large GWAS
European
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele T
OR 0.02
p 3.0e-39
N 1,030,836
Large GWAS
European
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele T
OR 1.10
p 3.0e-40
N 1,030,836
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.11
p 8.0e-29
N 589,441
Large GWAS
multi-ancestry
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele T
OR 1.13
p 1.0e-51
N 588,190
Large GWAS
multi-ancestry
Christophersen IE et al. “Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.” Nature Genetics 49(6):946-952 (2017)
Allele T
OR 1.11
p 1.0e-13
N 118,755
Large GWAS
European
Low SK et al. “Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.” Nature Genetics 49(6):953-958 (2017)
Allele T
OR 1.18
p 5.0e-15
N 36,792
Large GWAS
multi-ancestry
electrocardiography
Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele C
OR 0.09
p 3.0e-48
N 63,706
Major Consortium StudyLarge GWAS
European, NR
cardioembolic stroke
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele T
OR 10.96
p 6.0e-28
N 362,661
Large GWAS
European
QRS duration
Evans DS et al. “Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.” Human Molecular Genetics 25(19):4350-4368 (2016)
Allele T
OR 0.52
p 2.0e-15
N 53,438
Large GWAS
multi-ancestry
Brugada syndrome
Ishikawa T et al. “Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.” European Heart Journal 45(26):2320-2332 (2024)
Allele T
OR 0.80
p 3.0e-13
N 15,395
Large GWAS
multi-ancestry
Barc J et al. “Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.” Nature Genetics 54(3):232-239 (2022)
Allele T
OR 1.25
p 2.0e-10
N 12,821
Large GWAS
European
PR interval
Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)
Allele C
OR 0.12
p 4.0e-12
N 292,566
Large GWAS
multi-ancestry
heart function attribute
Sotoodehnia N et al. “Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.” Nature Genetics 42(12):1068-76 (2010)
Allele C
OR 0.49
p 1.0e-10
N 40,407
Large GWAS
European
cardiac arrhythmia
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.07
p 2.0e-9
N 212,453
Large GWAS
East Asian
▶ClinVar annotation
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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