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: rs17859821
rs17859821 		1.000 0.040 16 55478141 intron variant G/A;C snv 0.11
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.020 1.000 2 2009 2009
dbSNP: rs11646643
rs11646643 		1.000 0.040 16 55484965 intron variant A/G snv 0.31
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17859821
rs17859821 		1.000 0.040 16 55478141 intron variant G/A;C snv 0.11
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections 0.010 1.000 1 2016 2016
dbSNP: rs243847
rs243847 		1.000 0.080 16 55490086 intron variant T/C snv 0.36
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: rs575398965
rs575398965 		1.000 0.080 16 55479572 synonymous variant G/A snv 4.8E-05 4.9E-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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs121912954
rs121912954 		1.000 0.040 16 55485677 stop gained C/A;G snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1567378779
rs1567378779 		1.000 0.040 16 55493177 frameshift variant C/- delins
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.700 0
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: 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: 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: rs243864
rs243864 		0.925 0.080 16 55478410 intron variant T/G snv 0.19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.020 0.500 2 2009 2009