KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
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: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs368054556
rs368054556 		0.925 0.040 8 41934056 missense variant C/G snv 1.6E-05 1.4E-05
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs368054556
rs368054556 		0.925 0.040 8 41934056 missense variant C/G snv 1.6E-05 1.4E-05
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		Skin and Connective Tissue Diseases 0.700 0