MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Disease: TORG-WINCHESTER SYNDROME ×
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: rs121912954
rs121912954 		1.000 0.040 16 55485677 stop gained C/A;G snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.700 0