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: rs121912954
rs121912954 		1.000 0.040 16 55485677 stop gained C/A;G snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1567378779
rs1567378779 		1.000 0.040 16 55493177 frameshift variant C/- delins
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.700 0
dbSNP: rs243865
rs243865 		0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0149744
Disease: Oral lesion
Oral lesion 		Digestive System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs759302357
rs759302357 		1.000 0.080 16 55485627 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs764961297
rs764961297 		1.000 0.080 16 55496946 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
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: 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: 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: 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: 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: 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