Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909500
rs121909500
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type
T 0.700 CausalMutation CLINVAR