KAT14, lysine acetyltransferase 14, 57325

N. diseases: 4; N. variants: 1
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: rs771882905
rs771882905 		1.000 20 18162673 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs771882905
rs771882905 		1.000 20 18162673 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0