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: rs1892875
rs1892875
1.000 0.040 11 102835992 3 prime UTR variant G/A snv 1.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
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
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue 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: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome
Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
Infections; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018