Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777039
rs587777039
MMP14
0.800 GeneticVariation UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033

2012
dbSNP: rs587777039
rs587777039
MMP14
G 0.800 CausalMutation CLINVAR

dbSNP: rs121912955
rs121912955
MMP2
0.010 GeneticVariation BEFREE We report a homozygous missense mutation (E404K) in the active site of MMP2 in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. 15691365

2005