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: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs7201
rs7201 		0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
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: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs142319636
rs142319636 		0.790 0.080 16 55504828 intron variant A/G snv 3.7E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs1477017
rs1477017 		0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1477017
rs1477017 		0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs764664272
rs764664272 		1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract 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: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract 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: rs1238968510
rs1238968510 		0.882 0.080 16 55479556 missense variant A/G;T snv 4.1E-06 2.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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