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: 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
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
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: C0002965
Disease: Angina, Unstable
Angina, Unstable
Pathological Conditions, Signs and Symptoms; 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: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3025079
rs3025079
1.000 0.080 11 102835973 3 prime UTR variant C/T snv 2.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
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