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: 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: 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: 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: 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: 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: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
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: 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: rs639752
rs639752 		0.882 0.120 11 102836608 non coding transcript exon variant C/A snv 0.54
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2014
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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2019
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs520540
rs520540 		0.925 0.120 11 102838694 synonymous variant A/G snv 0.57 0.54
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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: rs639752
rs639752 		0.882 0.120 11 102836608 non coding transcript exon variant C/A snv 0.54
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017