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: 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: rs3025063
rs3025063
11 102840709 intron variant C/T snv 2.1E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs3025063
rs3025063
11 102840709 intron variant C/T snv 2.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
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: 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: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
Cardiovascular Diseases 0.700 1.000 1 2019 2019
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: 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: 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: 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: 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: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.030 1.000 3 2009 2019
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