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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs5854
rs5854 		1.000 0.040 11 102790143 3 prime UTR variant G/A snv 0.29
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs756459094
rs756459094 		0.925 0.040 11 102795237 missense variant T/A;C;G snv 1.6E-05; 4.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs756459094
rs756459094 		0.925 0.040 11 102795237 missense variant T/A;C;G snv 1.6E-05; 4.0E-06
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: 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: 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: 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: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: 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: 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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs513964
rs513964 		1.000 0.040 11 102795478 missense variant T/C snv 1.9E-04 7.7E-04
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1144393
rs1144393 		0.851 0.160 11 102798678 intron variant T/C snv 0.30
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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: 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