Variant: rs1554300601 

    present in Gene: BMPER
    present in Chromosome: 7
    Position on Chromosome: 33970336
    Alleles of this Variant: T/A

rs1554300601 in BMPER gene and Diaphanospondylodysostosis PMID 30006055 2019 Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.