Variant: rs318240762 

    present in Gene: BMP1
    present in Chromosome: 8
    Position on Chromosome: 22165439
    Alleles of this Variant: G/C

rs318240762 in BMP1 gene and OSTEOGENESIS IMPERFECTA, TYPE XIII PMID 22052668 2012 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

PMID 25402547 2015 Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

PMID 22482805 2012 Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.