rs527843566, 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 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.700 1.000 20 1989 2014
BCHE, H VARIANT PHENOTYPE
CUI: C3889592
Disease: BCHE, H VARIANT PHENOTYPE
1 1.000 0.160 3 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.700 0