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: 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: rs3787268
rs3787268
MMP9 ; SLC12A5-AS1
0.851 0.240 20 46013092 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2013 2018
dbSNP: rs3787268
rs3787268
MMP9 ; SLC12A5-AS1
0.851 0.240 20 46013092 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2013 2018
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2012 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 0.500 2 2011 2016
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2012 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2016 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 0.500 2 2013 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2016 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 0.500 2 2013 2017
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.020 1.000 2 2014 2019
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2016 2018
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2012 2015
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.020 1.000 2 2016 2016
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2013 2017