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: 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: 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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: rs575027
rs575027 		11 102837183 intron variant A/G snv 0.54
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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
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: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2009 2009
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: rs520540
rs520540 		0.925 0.120 11 102838694 synonymous variant A/G snv 0.57 0.54
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
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: 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: 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: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019