MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140059558
rs140059558 		1.000 0.080 11 102954174 missense variant A/C;G snv 6.0E-05; 4.0E-06
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2014 2015
dbSNP: rs121909497
rs121909497 		0.925 0.080 11 102955390 missense variant A/G snv
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2005 2005
dbSNP: rs11824953
rs11824953 		11 102949239 intron variant C/G snv 2.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11824953
rs11824953 		11 102949239 intron variant C/G snv 2.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11824953
rs11824953 		11 102949239 intron variant C/G snv 2.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11828157
rs11828157 		11 102947395 intron variant G/A snv 4.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11828157
rs11828157 		11 102947395 intron variant G/A snv 4.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11828157
rs11828157 		11 102947395 intron variant G/A snv 4.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11828157
rs11828157 		11 102947395 intron variant G/A snv 4.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11828157
rs11828157 		11 102947395 intron variant G/A snv 4.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121909498
rs121909498 		0.925 0.080 11 102955393 missense variant A/G snv
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121909499
rs121909499 		0.925 0.080 11 102955342 missense variant A/G snv
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121909500
rs121909500 		0.925 0.080 11 102952117 missense variant G/T snv 8.0E-06
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121909498
rs121909498 		0.925 0.080 11 102955393 missense variant A/G snv
CUI: C4016643
Disease: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121909499
rs121909499 		0.925 0.080 11 102955342 missense variant A/G snv
CUI: C4016643
Disease: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121909500
rs121909500 		0.925 0.080 11 102952117 missense variant G/T snv 8.0E-06
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1565256477
rs1565256477 		0.925 0.120 11 102955402 missense variant A/G snv
CUI: C0544755
Disease: Genu varum
Genu varum 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1565256477
rs1565256477 		0.925 0.120 11 102955402 missense variant A/G snv
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565256477
rs1565256477 		0.925 0.120 11 102955402 missense variant A/G snv
CUI: C0035579
Disease: Rickets
Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1565256477
rs1565256477 		0.925 0.120 11 102955402 missense variant A/G snv
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs369083541
rs369083541 		1.000 0.080 11 102955289 stop gained G/A snv 2.8E-05 7.0E-06
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs2252070
rs2252070 		0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.020 1.000 2 2014 2019
dbSNP: rs1192694481
rs1192694481 		0.882 0.080 11 102955629 missense variant C/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1192694481
rs1192694481 		0.882 0.080 11 102955629 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1192694481
rs1192694481 		0.882 0.080 11 102955629 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013