Gene: MMP2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912953
rs121912953
MMP2
0.800 GeneticVariation UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393

2006
dbSNP: rs121912955
rs121912955
MMP2
0.800 GeneticVariation UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393

2006
dbSNP: rs121912953
rs121912953
MMP2
0.800 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365

2005
dbSNP: rs121912955
rs121912955
MMP2
0.800 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365

2005
dbSNP: rs121912953
rs121912953
MMP2
0.800 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697

2001
dbSNP: rs121912955
rs121912955
MMP2
0.800 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697

2001
dbSNP: rs121912953
rs121912953
MMP2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912955
rs121912955
MMP2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912954
rs121912954
MMP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567378779
rs1567378779
MMP2
A 0.700 CausalMutation CLINVAR