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: 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: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs2285053
rs2285053 		0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C0264765
Disease: Rheumatic disease of mitral valve
Rheumatic disease of mitral valve 		0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
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: 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: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
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: 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
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2018 2019
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: 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
dbSNP: rs2285053
rs2285053 		0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C0026265
Disease: Diseases of mitral valve
Diseases of mitral valve 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2285053
rs2285053 		0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C1834819
Disease: MYXOMATOUS MITRAL VALVE PROLAPSE 1
MYXOMATOUS MITRAL VALVE PROLAPSE 1 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs243866
rs243866 		0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs243866
rs243866 		0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs243866
rs243866 		0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019