APTX, aprataxin, 54840

N. diseases: 94; N. variants: 21
Disease: Athetosis ×
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: rs1114167423
rs1114167423 		0.882 0.240 9 32984704 stop gained T/A snv
CUI: C0004158
Disease: Athetosis
Athetosis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017