rs6120946

This is a intron variant variant in the GDF5 gene.

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GWAS Catalog Trait Associations (2)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.03
p 1.0e-13
N 219,872
Major Consortium StudyLarge GWAS
European

Knee pain

Meng W et al. “Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.” Communications Biology 2:321 (2019)
Allele A
OR —
β 0.008
p 7.0e-9
N 171,516
Major Consortium StudyLarge GWAS
European

About GDF5

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

View all GDF5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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