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: 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: 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: rs243832
rs243832 		16 55505279 intron variant C/G snv 0.50
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs708269
rs708269 		16 55481783 5 prime UTR variant A/T snv 0.24
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 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