KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Young Simpson syndrome ×
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: 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: 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: rs1554845880
rs1554845880 		1.000 0.360 10 75029376 frameshift variant -/GA 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: rs1554845902
rs1554845902 		1.000 0.360 10 75029406 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: rs199470468
rs199470468 		1.000 0.360 10 75021280 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: 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: 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: 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