Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 1.000 2 2010 2013
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2010 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.020 1.000 2 2016 2017
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.020 0.500 2 2009 2016
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2010 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		0.020 1.000 2 2017 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2005 2010
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.020 1.000 2 2008 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.020 1.000 2 2017 2020
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 0.500 2 2012 2018
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0004096
Disease: Asthma
Asthma 		0.020 1.000 2 2013 2019
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2009 2020
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
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 		0.020 1.000 2 2009 2020
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2010 2012
dbSNP: rs2664538
rs2664538
MMP9
0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 0.500 2 2006 2008
dbSNP: rs2664538
rs2664538
MMP9
0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.020 0.500 2 2006 2008
dbSNP: rs139620474
rs139620474
MMP9
1.000 0.120 20 46009878 missense variant C/A;T snv 1.9E-05 7.7E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2002 2002
dbSNP: rs1430059719
rs1430059719
MMP9
1.000 0.080 20 46012456 missense variant G/C snv 4.0E-06
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2006 2006
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2014 2014
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis 		0.010 1.000 1 2018 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 < 0.001 1 2018 2018
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2008 2008