rs144434404

This is a upstream gene variant variant in the BMP7 gene.

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GWAS Catalog Trait Associations (1)

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

Moderate albuminuria

Salem RM et al. “Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.” Journal of the American Society of Nephrology : Jasn 30(10):2000-2016 (2019)

Allele T

OR 6.78

p 3.0e-9

N 14,560

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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