rs8068318

This is a intron variant variant in the TBX2 gene.

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GWAS Catalog Trait Associations (7)

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

diastolic blood pressure

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.26
p 3.0e-18
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele C
OR 0.25
p 3.0e-18
N 192,763
Large GWAS
multi-ancestry

systolic blood pressure

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR 0.41
p 2.0e-17
N 192,763
Large GWAS
multi-ancestry
Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele T
OR 0.42
p 4.0e-17
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele T
OR 0.52
p 2.0e-14
N 58,406
Large GWAS
East Asian

hypertension

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR 6.96
p 3.0e-12
N 183,273
Large GWAS
multi-ancestry

serum creatinine amount

Chambers JC et al. “Genetic loci influencing kidney function and chronic kidney disease.” Nature Genetics 42(5):373-5 (2010)
Allele G
OR 0.80
p 3.0e-10
N 23,812
Large GWAS
European

mean arterial pressure

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.28
p 2.0e-8
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

magnesium measurement

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 C
OR 0.05
p 1.0e-38
N 209,645
Major Consortium StudyLarge GWAS
multi-ancestry

About TBX2

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 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]

View all TBX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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