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: 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: rs2071230
rs2071230 		0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2071230
rs2071230 		0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2071230
rs2071230 		0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
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: 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: rs773474756
rs773474756 		0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs470221
rs470221 		1.000 0.040 11 102794539 intron variant T/C snv 0.77
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
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: 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: rs470558
rs470558 		1.000 0.040 11 102795585 synonymous variant T/C snv 0.92 0.95
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
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: rs1008478272
rs1008478272 		1.000 0.080 11 102796675 missense variant T/C snv
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
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: 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: 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: rs475007
rs475007 		11 102798581 intron variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
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: 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: rs498186
rs498186 		0.925 0.080 11 102798914 intron variant A/C snv 0.40
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2012 2012