Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777039
rs587777039
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
0.800 GeneticVariation UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033

2012