rs2273073

This is a variant in the BMP2 gene that changes a serine to an alanine.

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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Ventricular septal defect 1 (VSD1); not specified

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Research that mentions this SNP (1)

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Variation in the BMP2 Gene: Bone Mineral Density and Ultrasound in Young Adult and Elderly Women
AssociationN=1,994Fiona E. McGuigan et al.(2007)· Calcified Tissue International

This study examined associations between BMP2 gene polymorphisms and bone mineral density (BMD), fracture risk, and quantitative ultrasound (QUS) measures in young (n=993) and elderly (n=1,001) Swedish women. While no associations were found with BMD or fracture, SNP rs235754 showed significant associations with ultrasound speed of sound (P=0.003) and stiffness (P=0.002) in young women, suggesting BMP2 variation may influence bone quality independent of bone mass.

Traits studied:Bone mineral densityBone qualityFracture riskQuantitative ultrasound parameters
PubMedDOIMetascience Observatory

About BMP2

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 and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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