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: rs199470469
rs199470469 		1.000 0.320 10 75028504 frameshift variant TTCAAGTAACTTGAAA/- 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 0
dbSNP: rs199470470
rs199470470 		1.000 0.320 10 75028589 frameshift variant TCTA/- 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 0
dbSNP: rs199470472
rs199470472 		1.000 0.320 10 75028611 frameshift variant AA/- 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 0
dbSNP: rs199470473
rs199470473 		1.000 0.320 10 75028626 stop gained G/A;T snv 8.0E-06
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 0
dbSNP: rs199470475
rs199470475 		1.000 0.320 10 75028716 stop gained G/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 0
dbSNP: rs199470476
rs199470476 		1.000 0.360 10 75028893 stop gained G/T 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 0
dbSNP: rs199470478
rs199470478 		1.000 0.320 10 75029184 frameshift variant GAAAACCAG/AAAAACCAAAA 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 0
dbSNP: rs199470479
rs199470479 		1.000 0.360 10 75029228 frameshift variant -/T 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: rs199470482
rs199470482 		0.925 0.440 10 75030015 frameshift variant -/TGCTGCAGCA 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 0
dbSNP: rs199470483
rs199470483 		1.000 0.360 10 75030192 frameshift variant -/CAAC 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: rs199470484
rs199470484 		1.000 0.360 10 75030213 stop gained C/T 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 0
dbSNP: rs387907364
rs387907364 		1.000 0.360 10 75029888 frameshift variant TACTATGG/CACA 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: rs751215527
rs751215527 		1.000 0.360 10 75022115 stop gained G/C;T snv 1.6E-05
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: rs863224883
rs863224883 		1.000 0.360 10 75028786 frameshift variant AA/- del
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: 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: rs11001178
rs11001178 		1.000 0.040 10 74842047 intron variant T/C;G snv
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2014 2014
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