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: rs781310717
rs781310717 		1.000 0.040 16 55479630 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs780391868
rs780391868 		1.000 0.120 16 55491915 missense variant G/A;C;T snv 8.0E-06
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs774835704
rs774835704 		1.000 0.120 16 55488667 synonymous variant C/T snv 4.0E-06
CUI: C0154841
Disease: Central retinal vein occlusion
Central retinal vein occlusion 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs767232094
rs767232094 		1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs767232094
rs767232094 		1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs764961297
rs764961297 		1.000 0.080 16 55496946 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs764664272
rs764664272 		1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs764664272
rs764664272 		1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2015 2015
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
dbSNP: rs759302357
rs759302357 		1.000 0.080 16 55485627 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs755990134
rs755990134 		0.925 0.080 16 55489730 synonymous variant C/T snv 3.2E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs755990134
rs755990134 		0.925 0.080 16 55489730 synonymous variant C/T snv 3.2E-05 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs753867656
rs753867656 		1.000 0.040 16 55488566 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
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: rs752146777
rs752146777 		1.000 0.040 16 55483038 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018