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: rs527843566
rs527843566
BCHE
1.000 0.160 3 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs527843566
rs527843566
BCHE
1.000 0.160 3 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C3889592
Disease: BCHE, H VARIANT PHENOTYPE
BCHE, H VARIANT PHENOTYPE 		0.700 0