Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912955
rs121912955
MMP2
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		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