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: rs121912953
rs121912953 		1.000 0.040 16 55483057 missense variant G/A snv 4.0E-06
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		Musculoskeletal Diseases 0.800 1.000 3 2001 2006
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: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.720 1.000 2 2017 2018
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: 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: 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