Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909497
rs121909497
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.800 GeneticVariation UNIPROT MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086

2005
dbSNP: rs121909497
rs121909497
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		G 0.800 CausalMutation CLINVAR

dbSNP: rs140059558
rs140059558
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		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
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.800 GeneticVariation UNIPROT MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384

2014
dbSNP: rs140059558
rs140059558
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		C 0.800 CausalMutation CLINVAR

dbSNP: rs11824953
rs11824953
MMP13
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11824953
rs11824953
MMP13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11824953
rs11824953
MMP13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11828157
rs11828157
MMP13
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11828157
rs11828157
MMP13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11828157
rs11828157
MMP13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11828157
rs11828157
MMP13
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11828157
rs11828157
MMP13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs121909498
rs121909498
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667

2009
dbSNP: rs121909498
rs121909498
MMP13
CUI: C4016643
Disease: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121909499
rs121909499
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667

2009
dbSNP: rs121909499
rs121909499
MMP13
CUI: C4016643
Disease: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121909500
rs121909500
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667

2009
dbSNP: rs121909500
rs121909500
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1565256477
rs1565256477
MMP13
CUI: C0035579
Disease: Rickets
Rickets 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1565256477
rs1565256477
MMP13
CUI: C0544755
Disease: Genu varum
Genu varum 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1565256477
rs1565256477
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1565256477
rs1565256477
MMP13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs369083541
rs369083541
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs2252070
rs2252070
MMP13
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.020 GeneticVariation BEFREE We also assessed the potential association between 2 functional single nucleotide polymorphisms in the genes MMP9 (-1561C/T; rs3918242) and MMP13 (-77A/G; rs2252070), and the presence of large AAAs. 29739236

2019