rs121918557, BCHE

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
43 0.925 0.160 3 165829962 missense variant A/T snv 8.8E-05 1.4E-05 0.800 1.000 22 1989 2014
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
CUI: C1867469
Disease: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
1 0.925 0.160 3 165829962 missense variant A/T snv 8.8E-05 1.4E-05 0.700 0