MMP20, matrix metallopeptidase 20, 9313

N. diseases: 40; N. variants: 9
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: rs10895322
rs10895322 		0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.710 1.000 1 2017 2017
dbSNP: rs61730849
rs61730849 		0.925 0.080 11 102611889 missense variant G/A snv 1.5E-03 1.8E-03
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 3 2013 2017
dbSNP: rs1317947
rs1317947 		1.000 0.080 11 102617342 intron variant G/A snv 0.41
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1317947
rs1317947 		1.000 0.080 11 102617342 intron variant G/A snv 0.41
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17098961
rs17098961 		11 102609659 intron variant C/A;T snv
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2016 2016
dbSNP: rs61893841
rs61893841 		1.000 0.120 11 102591595 intron variant G/A snv 7.0E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs587777515
rs587777515 		1.000 0.080 11 102609070 missense variant A/T snv
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs587777516
rs587777516 		0.925 0.080 11 102625218 stop gained C/G;T snv 2.0E-05; 3.6E-05
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs786204826
rs786204826 		1.000 0.080 11 102609943 missense variant T/C snv
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs10895322
rs10895322 		0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10895322
rs10895322 		0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10895322
rs10895322 		0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1784418
rs1784418 		0.851 0.080 11 102613665 intron variant C/A;T snv 0.41
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired 		Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1784418
rs1784418 		0.851 0.080 11 102613665 intron variant C/A;T snv 0.41
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1784418
rs1784418 		0.851 0.080 11 102613665 intron variant C/A;T snv 0.41
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1784418
rs1784418 		0.851 0.080 11 102613665 intron variant C/A;T snv 0.41
CUI: C3665629
Disease: Dental fluorosis
Dental fluorosis 		0.010 1.000 1 2020 2020
dbSNP: rs587777516
rs587777516 		0.925 0.080 11 102625218 stop gained C/G;T snv 2.0E-05; 3.6E-05
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs61730849
rs61730849 		0.925 0.080 11 102611889 missense variant G/A snv 1.5E-03 1.8E-03
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2013 2013