KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
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: rs1555138529
rs1555138529 		1.000 11 118436642 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs74422681
rs74422681 		11 118442155 intron variant A/G snv 4.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2017122
rs2017122 		0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs2017122
rs2017122 		0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs587783678
rs587783678 		1.000 0.240 11 118468800 stop gained C/G snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555035550
rs1555035550 		1.000 0.240 11 118471761 frameshift variant -/T ins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1565278132
rs1565278132 		11 118471919 frameshift variant A/-;AA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555035779
rs1555035779 		1.000 0.240 11 118472197 frameshift variant A/- del
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs781978013
rs781978013 		1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs781978013
rs781978013 		1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 22 1989 2017
dbSNP: rs781978013
rs781978013 		1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs1555036394
rs1555036394 		1.000 11 118473352 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs1555036394
rs1555036394 		1.000 11 118473352 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs727503777
rs727503777 		1.000 0.080 11 118473392 stop gained C/T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555036436
rs1555036436 		1.000 11 118473420 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs1555036436
rs1555036436 		1.000 11 118473420 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587783676
rs587783676 		1.000 0.240 11 118473829 frameshift variant GA/- delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555036801
rs1555036801 		1.000 0.240 11 118474055 stop gained A/T snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs940325244
rs940325244 		1.000 0.120 11 118474178 splice acceptor variant G/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
dbSNP: rs886041856
rs886041856 		1.000 11 118476949 stop gained C/A;T snv 4.0E-06
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0