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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 0.500 2 2018 2019
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: 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: 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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		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: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17886084
rs17886084 		1.000 0.080 11 102799765 intron variant C/- delins
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; 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: 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: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.010 1.000 1 2010 2010
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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0019270
Disease: Hernia
Hernia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
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: rs1799750
rs1799750 		0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016