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: 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
CUI: C0003857
Disease: Congenital arteriovenous malformation
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
CUI: C0392885
Disease: High density lipoprotein measurement
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
dbSNP: rs522616
rs522616 		0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		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: C0035235
Disease: Respiratory Syncytial Virus Infections
Respiratory Syncytial Virus Infections 		Infections 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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs639752
rs639752 		0.882 0.120 11 102836608 non coding transcript exon variant C/A snv 0.54
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs650108
rs650108 		0.827 0.160 11 102838056 intron variant G/A snv 0.31
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs679620
rs679620 		0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs35068180
rs35068180 		0.851 0.040 11 102845217 upstream gene variant A/-;AA delins
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs72520913
rs72520913 		11 102845217 upstream gene variant -/C;G ins
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 0.500 2 2014 2016
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs3025058
rs3025058 		0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs678815
rs678815 		0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014