Variant: rs121912953 

    present in Gene: MMP2
    present in Chromosome: 16
    Position on Chromosome: 55483057
    Alleles of this Variant: G/A

rs121912953 in MMP2 gene and TORG-WINCHESTER SYNDROME PMID 16542393 2006 A novel homozygous MMP2 mutation in a family with Winchester syndrome.

PMID 11431697 2001 Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.

PMID 15691365 2005 Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.