MMP20, matrix metallopeptidase 20, 9313

N. diseases: 40; N. variants: 9
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: rs587777516
rs587777516
0.925 0.080 11 102625218 stop gained C/G;T snv 2.0E-05; 3.6E-05
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs61730849
rs61730849
0.925 0.080 11 102611889 missense variant G/A snv 1.5E-03 1.8E-03
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2013 2013