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: 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: 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: rs243866
rs243866
0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs243866
rs243866
0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
Eye Diseases 0.010 1.000 1 2010 2010
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs243866
rs243866
0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye 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: 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: 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
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.030 0.333 3 2017 2018
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.030 0.333 3 2017 2018
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: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.020 0.500 2 2017 2019
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2016 2016
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2011 2018
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2016 2016
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
Neoplasms; Stomatognathic Diseases 0.020 1.000 2 2017 2018
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 < 0.001 2 2008 2013
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2016 2016
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
Neoplasms; Stomatognathic Diseases 0.720 1.000 2 2017 2018
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2016 2016