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: 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: rs1565779530
rs1565779530 		1.000 12 49033658 stop gained G/A snv
CUI: C1332865
Disease: Cavernous Sinus Meningioma
Cavernous Sinus Meningioma 		0.700 0
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: rs1565789104
rs1565789104 		0.925 0.120 12 49038730 frameshift variant G/- delins
CUI: C3151078
Disease: Complement Component C1s Deficiency
Complement Component C1s Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs954226380
rs954226380 		1.000 0.120 12 49054970 missense variant G/A snv 1.2E-05
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1555184787
rs1555184787 		1.000 12 49022591 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555186842
rs1555186842 		1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555187440
rs1555187440 		1.000 12 49031293 frameshift variant TT/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555188623
rs1555188623 		1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555194443
rs1555194443 		1.000 12 49044766 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908 		1.000 12 49046358 stop gained G/C;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690 		0.925 0.120 12 49031255 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs794727688
rs794727688 		1.000 12 49026431 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: 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: 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: rs1555185217
rs1555185217 		1.000 0.120 12 49024578 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 0.800 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: rs200088180
rs200088180 		1.000 0.120 12 49051743 missense variant G/A;C;T snv 1.2E-05; 4.6E-04
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2010 2014
dbSNP: rs267607237
rs267607237 		1.000 0.120 12 49026430 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 0.800 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