rs121918556, 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 1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05 0.700 1.000 20 1989 2014
BCHE, J VARIANT PHENOTYPE
CUI: C3889591
Disease: BCHE, J VARIANT PHENOTYPE
1 1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05 0.700 0