rs6984210

This variant is located in the BMP1 gene.

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GWAS Catalog Trait Associations (1)

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

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele C

OR 0.08

p 1.0e-11

N 547,261

Large GWAS

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Uterine carcinosarcoma; Acute myeloid leukemia; Sarcoma

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]

View all BMP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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