MMP3, matrix metallopeptidase 3, 4314

N. diseases: 473; N. variants: 24
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: rs591058
rs591058 		0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2009 2017
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2009 2017
dbSNP: rs3025063
rs3025063 		11 102840709 intron variant C/T snv 2.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3025063
rs3025063 		11 102840709 intron variant C/T snv 2.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs476762
rs476762 		1.000 0.040 11 102839976 intron variant T/A snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs476762
rs476762 		1.000 0.040 11 102839976 intron variant T/A snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs566125
rs566125 		1.000 0.040 11 102839740 intron variant C/T snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs566125
rs566125 		1.000 0.040 11 102839740 intron variant C/T snv 0.10
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs566125
rs566125 		1.000 0.040 11 102839740 intron variant C/T snv 0.10
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs575027
rs575027 		11 102837183 intron variant A/G snv 0.54
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs591058
rs591058 		0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs591058
rs591058 		0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs646910
rs646910 		1.000 0.040 11 102838791 intron variant T/A snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs646910
rs646910 		1.000 0.040 11 102838791 intron variant T/A snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2009 2009
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs655403
rs655403 		1.000 0.040 11 102837776 intron variant C/T snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs655403
rs655403 		1.000 0.040 11 102837776 intron variant C/T snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs678815
rs678815 		0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs678815
rs678815 		0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs678815
rs678815 		0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs678815
rs678815 		0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014