BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Disease: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ×
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: rs121918557
rs121918557 		0.925 0.160 3 165829962 missense variant A/T snv 8.8E-05 1.4E-05
CUI: C1867469
Disease: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0