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: 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
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: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
Neoplasms; Respiratory Tract 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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013