Variant: rs1057516036 

    present in Gene: COL1A2
    present in Chromosome: 7
    Position on Chromosome: 94423065
    Alleles of this Variant: G/A

rs1057516036 in COL1A2 gene and Bowing of the long bones PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516036 in COL1A2 gene and Increased susceptibility to fractures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516036 in COL1A2 gene and Osteogenesis imperfecta, recessive perinatal lethal PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516036 in COL1A2 gene and Osteopenia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.