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: rs142481975
rs142481975 		1.000 0.040 11 102843480 missense variant C/T snv 4.0E-06
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs602128
rs602128 		1.000 0.040 11 102842734 missense variant A/C;G snv 4.0E-06; 0.57
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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
dbSNP: rs72520913
rs72520913 		11 102845217 upstream gene variant -/C;G ins
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 2015 2018
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 0.500 2 2014 2016
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2019
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019