MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Disease: Disproportionate short stature ×
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: 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