rs7834745

This is a intron variant variant in the TNFRSF11B gene.

GWAS Catalog Trait Associations (3)

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

eosinophil count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 6.0e-13
N 408,112
Large GWAS
European
Allele G
OR 0.03
p 9.0e-10
N 172,275
Large GWAS
European

basophil count, eosinophil count

Allele G
OR 0.03
p 7.0e-9
N 171,771
Large GWAS
European

Graves disease

Allele G
OR 0.07
p 2.0e-8
N 2,460,657
Large GWAS
multi-ancestry

About TNFRSF11B

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

View all TNFRSF11B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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