rs2855530

This variant is located in the BMP4 gene.

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GWAS Catalog Trait Associations (3)

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

refractive error, age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele C
OR 8.57
p 1.0e-17
N 170,420
Meta-analysisLarge GWAS
multi-ancestry

cataract

Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)
Allele C
OR 1.03
p 7.0e-17
N 586,243
Meta-analysisLarge GWAS
multi-ancestry

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele C
OR —
β 0.012
p 1.0e-9
N 406,504
Large GWAS
European

About BMP4

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 heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

View all BMP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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