MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2071230
rs2071230 		0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs773474756
rs773474756 		0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17886084
rs17886084 		1.000 0.080 11 102799765 intron variant C/- delins
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0019270
Disease: Hernia
Hernia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2071230
rs2071230 		0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2018 2018