Gene: MMP13 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140059558
rs140059558
MMP13
0.800 GeneticVariation UNIPROT Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 24781753

2015
dbSNP: rs140059558
rs140059558
MMP13
0.800 GeneticVariation UNIPROT MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384

2014
dbSNP: rs140059558
rs140059558
MMP13
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909500
rs121909500
MMP13
T 0.700 CausalMutation CLINVAR

dbSNP: rs369083541
rs369083541
MMP13
A 0.700 CausalMutation CLINVAR