Source: UNIPROT

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: rs745364489
rs745364489
BCHE
1.000 0.160 3 165829794 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 0 2003 2012
dbSNP: rs770337031
rs770337031
BCHE
1.000 0.160 3 165829967 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs892642457
rs892642457
BCHE
1.000 0.160 3 165830202 missense variant T/G snv
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs979653503
rs979653503
BCHE
1.000 0.160 3 165830727 missense variant C/G snv 7.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0