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: rs1056628
rs1056628
20 46016407 3 prime UTR variant A/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1056628
rs1056628
20 46016407 3 prime UTR variant A/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3918252
rs3918252
20 46010492 missense variant C/G snv 3.6E-05 2.4E-04
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2015 2015
dbSNP: rs3918261
rs3918261
20 46014953 intron variant A/G snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs3918270
rs3918270
20 46016700 intron variant G/A snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.060 1.000 6 2009 2013
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: 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: 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: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.030 0.667 3 2009 2013
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.020 1.000 2 2015 2017
dbSNP: rs17576
rs17576
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
Eye Diseases 0.020 1.000 2 2010 2013
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 0.500 2 2010 2018
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.020 1.000 2 2016 2017
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2009 2016
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 0.500 2 2010 2018
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
Musculoskeletal Diseases 0.020 1.000 2 2017 2018
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2005 2010
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.020 1.000 2 2008 2018
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.020 1.000 2 2017 2020
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 0.500 2 2012 2018
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis
Infections; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17576
rs17576
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
Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2018 2018