Variant: rs137853892 

    present in Gene: SERPINH1
    present in Chromosome: 11
    Position on Chromosome: 75566582
    Alleles of this Variant: T/C

rs137853892 in SERPINH1 gene and OSTEOGENESIS IMPERFECTA, TYPE X PMID 20188343 2010 Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.