MMP9, matrix metallopeptidase 9, 4318

N. diseases: 1337; N. variants: 31
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: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
Eye Diseases 0.050 0.800 5 2009 2020
dbSNP: rs2250889
rs2250889
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
Eye Diseases 0.020 1.000 2 2009 2020
dbSNP: rs2664538
rs2664538
0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
Eye Diseases 0.020 0.500 2 2006 2008
dbSNP: rs3918249
rs3918249
0.807 0.200 20 46009497 intron variant T/C snv 0.41
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
Eye Diseases 0.020 1.000 2 2011 2016
dbSNP: rs17577
rs17577
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
Eye Diseases 0.010 1.000 1 2016 2016