rs2286276
This is a regulatory region variant variant in the TBL2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
Kim YJ et al. “Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.” Nature Genetics 43(10):990-5 (2011)
Allele T
OR 0.07
p 1.0e-15
N 12,545
Large GWAS
East Asian
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.11
p 1.0e-10
N 13,814
Large GWAS
European
gout
Sandoval-Plata G et al. “Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank.” Annals of the Rheumatic Diseases 80(9):1220-1226 (2021)
Allele T
OR 0.85
p 2.0e-13
N 71,473
Major Consortium StudyLarge GWAS
European
hearing loss
Cornejo-Sanchez DM et al. “Rare-variant association analysis reveals known and new age-related hearing loss genes.” European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)
Allele T
OR 0.05
p 5.0e-8
N 135,011
Large GWAS
European
About TBL2
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
View all TBL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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