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: rs35068180
rs35068180
0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
Infections 0.010 1.000 1 2013 2013
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic 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: 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: 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: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C1568272
Disease: Tendinopathy
Tendinopathy
Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2009 2009
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: 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: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome
Wounds and Injuries 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: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
Infections; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
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: 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: 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: 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: 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: 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: 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: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
Respiratory Syncytial Virus Infections
Infections 0.010 1.000 1 2012 2012
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
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: rs35068180
rs35068180
0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2015 2015