rs1978060

This is a regulatory region variant variant in the TBX1 gene.

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GWAS Catalog Trait Associations (7)

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

odorant-binding protein 2b 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 0.03

p 2.0e-14

N 47,745

Large GWAS

European

chronic rhinosinusitis with nasal polyps

Saarentaus EC et al. “131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.” Nature Communications 16(1):9879 (2025)

Allele A

OR 1.12

p 1.0e-13

N 695,228

Large GWAS

European

adolescent idiopathic scoliosis

Kou I et al. “Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.” Nature Communications 10(1):3685 (2019)

Allele G

OR 1.16

p 3.0e-10

N 79,211

Large GWAS

East Asian

Nasal Cavity Polyp

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.12

p 9.0e-9

N 602,065

Large GWAS

multi-ancestry

prostate specific antigen amount

Hoffmann TJ et al. “Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.” Nature Genetics 57(2):334-344 (2025)

Allele A

OR 0.01

p 2.0e-8

N 392,522

Large GWAS

multi-ancestry

prostate carcinoma

Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)

Allele G

OR 1.05

p 3.0e-19

N 726,828

Large GWAS

European

Conti DV et al. “Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.” Nature Genetics 53(1):65-75 (2021)

Allele G

OR 1.05

p 4.0e-14

N 234,253

Meta-analysisLarge GWAS

multi-ancestry

susceptibility to childhood ear infection measurement

Tian C et al. “Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.” Nature Communications 8(1):599 (2017)

Allele G

OR 1.17

p 3.0e-10

N 89,227

Large GWAS

European

About TBX1

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 shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

rs1978060

GWAS Catalog Trait Associations (7)

odorant-binding protein 2b measurement

chronic rhinosinusitis with nasal polyps

adolescent idiopathic scoliosis

Nasal Cavity Polyp

prostate specific antigen amount

prostate carcinoma

susceptibility to childhood ear infection measurement

About TBX1

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