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: 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: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
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: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2009 2017
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: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal 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: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025063
rs3025063 		11 102840709 intron variant C/T snv 2.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
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: 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: 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 2015 2018
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: 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: rs639752
rs639752 		0.882 0.120 11 102836608 non coding transcript exon variant C/A snv 0.54
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs569444
rs569444 		0.925 0.120 11 102836574 non coding transcript exon variant G/A;T snv 0.12; 6.7E-06 0.10
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010