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: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.030 1.000 3 2009 2019
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: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2009
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2014
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2008 2014
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2010 2018
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0035235
Disease: Respiratory Syncytial Virus Infections
Respiratory Syncytial Virus Infections 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
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: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009