MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
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: rs121912953
rs121912953 		1.000 0.040 16 55483057 missense variant G/A snv 4.0E-06
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.800 1.000 3 2001 2006
dbSNP: rs121912955
rs121912955 		0.925 0.200 16 55491830 missense variant G/A snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.800 1.000 3 2001 2006
dbSNP: rs1022088103
rs1022088103 		16 55485759 missense variant G/A snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs121912955
rs121912955 		0.925 0.200 16 55491830 missense variant G/A snv
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1231584616
rs1231584616 		16 55485367 missense variant G/A snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs12934241
rs12934241 		0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12934241
rs12934241 		0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17301608
rs17301608 		0.925 0.080 16 55484698 intron variant C/A;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs17301608
rs17301608 		0.925 0.080 16 55484698 intron variant C/A;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs2287074
rs2287074 		0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2287074
rs2287074 		0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs2287074
rs2287074 		0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired 		Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2287074
rs2287074 		0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28730814
rs28730814 		1.000 0.040 16 55496952 missense variant G/A;C;T snv 1.3E-03; 1.1E-04; 4.0E-06
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs371828436
rs371828436 		1.000 0.120 16 55489798 missense variant G/A;T snv 4.0E-06
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs745732650
rs745732650 		1.000 0.080 16 55485700 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs753247528
rs753247528 		1.000 0.080 16 55483076 synonymous variant G/A snv 1.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs763201736
rs763201736 		0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016