Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) ×
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: rs1057521153
rs1057521153 		1.000 0.080 3 15456524 missense variant A/G snv
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 1998 2014