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: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2236416
rs2236416 		1.000 0.120 20 46011936 intron variant A/G snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2274755
rs2274755 		0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918241
rs3918241 		0.925 0.080 20 46007096 upstream gene variant T/A snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918261
rs3918261 		20 46014953 intron variant A/G snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918270
rs3918270 		20 46016700 intron variant G/A snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs41529445
rs41529445 		1.000 0.080 20 46011266 missense variant C/T snv 9.7E-04 1.5E-03
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		Infections; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1056628
rs1056628 		20 46016407 3 prime UTR variant A/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1056628
rs1056628 		20 46016407 3 prime UTR variant A/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs13925
rs13925 		1.000 0.080 20 46016326 synonymous variant G/A snv 0.15 0.15
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
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: 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: rs1459997671
rs1459997671 		0.882 0.120 20 46010963 synonymous variant C/T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs1459997671
rs1459997671 		0.882 0.120 20 46010963 synonymous variant C/T snv
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1459997671
rs1459997671 		0.882 0.120 20 46010963 synonymous variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis 		Infections; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		Infections 0.010 1.000 1 2017 2017