MMP9, matrix metallopeptidase 9, 4318

N. diseases: 1337; N. variants: 31
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: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		Neoplasms 0.010 1.000 1 1994 1994
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		Neoplasms 0.010 1.000 1 1994 1994
dbSNP: rs139620474
rs139620474 		1.000 0.120 20 46009878 missense variant C/A;T snv 1.9E-05 7.7E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0340288
Disease: Stable angina
Stable angina 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2274756
rs2274756 		0.851 0.200 20 46014472 missense variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs2664538
rs2664538 		0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs1430059719
rs1430059719 		1.000 0.080 20 46012456 missense variant G/C snv 4.0E-06
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0518948
Disease: Chlamydia trachomatis infection
Chlamydia trachomatis infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2005 2007
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2007 2007