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: rs1423621991
rs1423621991 		11 102796745 missense variant C/T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
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: rs475007
rs475007 		11 102798581 intron variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2014
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: 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 0.500 2 2018 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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.020 1.000 2 2014 2018
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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2018 2018
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016