rs4876869

This is a intron variant variant in the TNFRSF11B gene.

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GWAS Catalog Trait Associations (1)

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

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)

Allele G

OR 0.06

p 1.0e-8

N 20,860

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Association Analyses of RANKL/RANK/OPG Gene Polymorphisms with Femoral Neck Compression Strength Index Variation in Caucasians

AssociationN=1,873Shan-Shan Dong et al.(2009)· Calcified Tissue International

This association study of 1,873 subjects from 405 Caucasian nuclear families examined RANKL/RANK/OPG gene polymorphisms in relation to femoral neck compression strength index (fCSI). Three RANKL SNPs (rs12585014, rs7988338, rs2148073) were significantly associated with fCSI (P = 0.0007, 0.0007, and 0.0005, respectively) after Bonferroni correction, with a haplotype showing even stronger association (P = 0.0003). No significant associations were detected with bone mineral density, femoral neck width, or weight.

Traits studied:Femoral neck bone mineral densityFemoral neck compression strength indexFemoral neck widthHip fracture risk

PubMed DOI Metascience Observatory

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]