MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
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: rs17878931
rs17878931 		11 102795924 intron variant G/T snv 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2075847
rs2075847 		11 102799093 intron variant A/C;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2075847
rs2075847 		11 102799093 intron variant A/C;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2075847
rs2075847 		11 102799093 intron variant A/C;G snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2014 2019
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2239008
rs2239008 		1.000 0.040 11 102790349 3 prime UTR variant G/A snv 0.19
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs498186
rs498186 		0.925 0.080 11 102798914 intron variant A/C snv 0.40
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs773474756
rs773474756 		0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs781662103
rs781662103 		1.000 0.040 11 102797141 synonymous variant A/G snv 8.0E-06 1.4E-05
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.030 1.000 3 2011 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.020 1.000 2 2013 2017
dbSNP: rs10488
rs10488 		1.000 0.040 11 102797291 synonymous variant C/G;T snv 4.0E-06; 5.7E-02
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2018 2018