rs45540840
This is a regulatory region variant variant in the PHLDB1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cartilage thickness measurement
Faber BG et al. “The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses.” Ebiomedicine 95:104759 (2023)
Allele A
OR 0.04
p 2.0e-8
N 50,745
Meta-analysisLarge GWAS
European
About PHLDB1
Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]
View all PHLDB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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