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: rs28933390
rs28933390
1.000 0.160 3 165829781 missense variant C/A;G;T snv 3.1E-03; 4.0E-06; 4.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency
0.700 1.000 20 1989 2014
dbSNP: rs28933390
rs28933390
1.000 0.160 3 165829781 missense variant C/A;G;T snv 3.1E-03; 4.0E-06; 4.0E-06
CUI: C3889588
Disease: BCHE, FLUORIDE 2 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE
0.700 0