rs4811827

This is a intron variant variant in the BMP7 gene.

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GWAS Catalog Trait Associations (2)

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

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)
Allele T
OR 0.04
p 1.0e-11
N 43,485
Large GWAS
multi-ancestry

nose morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)
Allele C
OR —
p 3.0e-9
N 3,566
Large GWAS
European

About BMP7

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, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]

View all BMP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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