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: 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: rs1132896
rs1132896 		16 55485623 synonymous variant G/C snv 0.31 0.26
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11639960
rs11639960 		0.925 0.080 16 55499358 intron variant A/G snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs11639960
rs11639960 		0.925 0.080 16 55499358 intron variant A/G snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs11643630
rs11643630 		0.925 0.080 16 55476547 intron variant T/G snv 0.55
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11643630
rs11643630 		0.925 0.080 16 55476547 intron variant T/G snv 0.55
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11644561
rs11644561 		0.925 0.080 16 55475122 intron variant G/A snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11644561
rs11644561 		0.925 0.080 16 55475122 intron variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 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: 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: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: rs14070
rs14070 		16 55502815 synonymous variant C/T snv 0.40 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1477017
rs1477017 		0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1477017
rs1477017 		0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
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: 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: rs2285053
rs2285053 		0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2285053
rs2285053 		0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012