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: rs121912955
rs121912955
0.925 0.200 16 55491830 missense variant G/A snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
Musculoskeletal Diseases 0.800 1.000 3 2001 2006
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: 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: rs2285053
rs2285053
0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2007 2019
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: 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: 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: 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: 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