ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Seizures ×
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: rs869312696
rs869312696 		0.882 0.160 18 33739086 stop gained C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0