rs13232120
This is a 3 prime utr variant variant in the TBL2 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.08
p 1.0e-32
N 126,671
Large GWAS
multi-ancestry
phospholipids:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.07
p 2.0e-27
N 126,671
Large GWAS
multi-ancestry
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 5.0e-23
N 128,922
Large GWAS
European
triglycerides:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.06
p 2.0e-22
N 126,671
Large GWAS
multi-ancestry
free cholesterol:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 1.0e-15
N 126,671
Large GWAS
multi-ancestry
alanine measurement
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele T
OR 7.07
p 2.0e-12
N 86,413
Large GWAS
European
degree of unsaturation measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-12
N 128,922
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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