MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Disease: Metaphyseal chondrodysplasia Spahr type ×
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: 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: 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