KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
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: rs199470477
rs199470477 		1.000 0.320 10 75029027 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2011 2018
dbSNP: rs199470477
rs199470477 		1.000 0.320 10 75029027 frameshift variant CT/- delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2011 2017
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12254441
rs12254441 		10 74858099 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1564632652
rs1564632652 		1.000 0.320 10 75030114 stop gained C/T snv
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs199470482
rs199470482 		0.925 0.440 10 75030015 frameshift variant -/TGCTGCAGCA delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1554843829
rs1554843829 		1.000 0.360 10 75022074 frameshift variant A/- delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C1848207
Disease: Poor speech
Poor speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0423113
Disease: Telecanthus
Telecanthus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554844486
rs1554844486 		0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 0