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: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		Neoplasms 0.010 1.000 1 1994 1994
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2664538
rs2664538 		0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs2274756
rs2274756 		0.851 0.200 20 46014472 missense variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs2664538
rs2664538 		0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0017605
Disease: Angle Closure Glaucoma
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: C0017605
Disease: Angle Closure Glaucoma
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: C0017605
Disease: Angle Closure Glaucoma
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: C0017605
Disease: Angle Closure Glaucoma
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: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.020 1.000 2 2014 2019
dbSNP: rs201191171
rs201191171 		0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2234681
rs2234681 		1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8125581
rs8125581 		1.000 0.040 20 46010604 missense variant G/A snv 3.0E-04 3.4E-04
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9509
rs9509 		0.925 0.120 20 46016514 3 prime UTR variant T/C snv 0.11
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 0.333 3 2005 2019
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2013 2019
dbSNP: rs13925
rs13925 		1.000 0.080 20 46016326 synonymous variant G/A snv 0.15 0.15
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs20544
rs20544 		0.925 0.120 20 46016371 3 prime UTR variant C/T snv 0.43 0.44
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3918249
rs3918249 		0.807 0.200 20 46009497 intron variant T/C snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009