Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918556
rs121918556
BCHE
1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs121918556
rs121918556
BCHE
1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05
CUI: C3889591
Disease: BCHE, J VARIANT PHENOTYPE
BCHE, J VARIANT PHENOTYPE 		0.700 0