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: rs476762
rs476762 		1.000 0.040 11 102839976 intron variant T/A snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs476762
rs476762 		1.000 0.040 11 102839976 intron variant T/A snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs494963
rs494963 		1.000 0.040 11 102845095 upstream gene variant C/A snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs494963
rs494963 		1.000 0.040 11 102845095 upstream gene variant C/A snv 0.10
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs563096
rs563096 		1.000 0.040 11 102836635 non coding transcript exon variant A/T snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs563096
rs563096 		1.000 0.040 11 102836635 non coding transcript exon variant A/T snv 0.10
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs566125
rs566125 		1.000 0.040 11 102839740 intron variant C/T snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs566125
rs566125 		1.000 0.040 11 102839740 intron variant C/T snv 0.10
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
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: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs646910
rs646910 		1.000 0.040 11 102838791 intron variant T/A snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs646910
rs646910 		1.000 0.040 11 102838791 intron variant T/A snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs655403
rs655403 		1.000 0.040 11 102837776 intron variant C/T snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs655403
rs655403 		1.000 0.040 11 102837776 intron variant C/T snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs680753
rs680753 		1.000 0.040 11 102840850 intron variant C/G snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs680753
rs680753 		1.000 0.040 11 102840850 intron variant C/G snv 0.11
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
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: 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: 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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
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: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
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