KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Genitopatellar 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: 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: 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: rs1564628365
rs1564628365 		1.000 0.320 10 75025166 frameshift variant A/- del
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: 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: 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: 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