MMP3, matrix metallopeptidase 3, 4314

N. diseases: 473; N. variants: 24
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: rs3025079
rs3025079
1.000 0.080 11 102835973 3 prime UTR variant C/T snv 2.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs520540
rs520540
0.925 0.120 11 102838694 synonymous variant A/G snv 0.57 0.54
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2009
dbSNP: rs142481975
rs142481975
1.000 0.040 11 102843480 missense variant C/T snv 4.0E-06
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs650108
rs650108
0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs650108
rs650108
0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C1568272
Disease: Tendinopathy
Tendinopathy
Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C1568272
Disease: Tendinopathy
Tendinopathy
Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs3025058
rs3025058
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
Congenital arteriovenous malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs569444
rs569444
0.925 0.120 11 102836574 non coding transcript exon variant G/A;T snv 0.12; 6.7E-06 0.10
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs650108
rs650108
0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3025063
rs3025063
11 102840709 intron variant C/T snv 2.1E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs3025063
rs3025063
11 102840709 intron variant C/T snv 2.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012