KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
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: rs1388523736
rs1388523736 		1.000 0.120 12 49022122 missense variant C/T snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs1555185701
rs1555185701 		1.000 0.120 12 49026401 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs1555185875
rs1555185875 		1.000 0.120 12 49026878 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs267607238
rs267607238 		1.000 0.120 12 49022301 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs763347763
rs763347763 		1.000 0.120 12 49038835 missense variant G/C;T snv 6.1E-06; 6.1E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs776242478
rs776242478 		1.000 0.120 12 49052055 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs778418522
rs778418522 		1.000 0.120 12 49031647 missense variant G/A snv 3.9E-05 4.9E-05
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs398123721
rs398123721 		1.000 0.120 12 49027256 stop gained G/A;C snv 5.2E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2010 2016
dbSNP: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2013 2017
dbSNP: rs398123744
rs398123744 		1.000 0.120 12 49048065 frameshift variant AT/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2014 2016
dbSNP: rs10875914
rs10875914 		1.000 0.040 12 49028311 intron variant A/G snv 0.44
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs1422752351
rs1422752351 		1.000 0.120 12 49022350 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2011 2016
dbSNP: rs398123753
rs398123753 		1.000 0.120 12 49041175 frameshift variant A/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		0.700 1.000 1 2016 2016
dbSNP: rs1057518571
rs1057518571 		1.000 0.120 12 49040359 stop gained G/A snv 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519595
rs1057519595 		1.000 0.120 12 49050594 frameshift variant A/- del 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10875914
rs10875914 		1.000 0.040 12 49028311 intron variant A/G snv 0.44
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10875915
rs10875915 		12 49036311 intron variant C/A;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1555184777
rs1555184777 		1.000 0.120 12 49022588 splice donor variant A/G snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555185301
rs1555185301 		1.000 0.120 12 49024810 frameshift variant -/A ins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555186232
rs1555186232 		1.000 0.120 12 49028008 splice donor variant C/A;T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017