rs145284541

This variant is located in the BMP1 gene.

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GWAS Catalog Trait Associations (2)

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

level of SPARC-related modular calcium-binding protein 2 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.21

p 6.0e-14

N 47,745

Large GWAS

European

amount of collagen alpha-1(IV) chain (human) in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.23

p 3.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

11 submitters2 publications

Osteogenesis imperfecta type 13; not specified; not provided; Osteogenesis imperfecta; BMP1-related disorder

View on ClinVar →

About BMP1

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]