rs35659126

This is a intron variant variant in the TBL2 gene.

GWAS Catalog Trait Associations (6)

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

fatty acid amount

Allele T
OR
p 2.0e-42
N 239,268
Large GWAS
European

cholesterol:total lipids ratio, intermediate density lipoprotein measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 1.0e-20
N 136,016
Large GWAS
multi-ancestry

Red cell distribution width

Allele C
OR 0.02
p 1.0e-12
N 531,774
Large GWAS
European

insomnia

Allele T
OR 0.01
p 4.0e-10
N 2,365,010
Meta-analysisLarge 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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