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: rs764664272
rs764664272
1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs142319636
rs142319636
0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
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: rs2287074
rs2287074
0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2008 2008
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: 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: rs575398965
rs575398965
1.000 0.080 16 55479572 synonymous variant G/A snv 4.8E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs753247528
rs753247528
1.000 0.080 16 55483076 synonymous variant G/A snv 1.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2285053
rs2285053
0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C0003165
Disease: Anthracosis
Anthracosis
Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs745732650
rs745732650
1.000 0.080 16 55485700 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
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: rs2285053
rs2285053
0.752 0.320 16 55478465 intron variant C/T snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs763201736
rs763201736
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1238968510
rs1238968510
0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs763201736
rs763201736
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2287074
rs2287074
0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality)
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality)
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs243865
rs243865
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774835704
rs774835704
1.000 0.120 16 55488667 synonymous variant C/T snv 4.0E-06
CUI: C0154841
Disease: Central retinal vein occlusion
Central retinal vein occlusion
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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