Have questions? Visit https://www.reddit.com/r/SNPedia

rs28933390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Possible pseudocholinesterase deficiency carrier
(T;T) 4 Pseudocholinesterase Deficiency
ReferenceGRCh38 38.1/142
Chromosome3
Position165829781
GeneBCHE
is asnp
is mentioned by
dbSNPrs28933390
dbSNP (classic)rs28933390
ClinGenrs28933390
ebirs28933390
HLIrs28933390
Exacrs28933390
Gnomadrs28933390
Varsomers28933390
LitVarrs28933390
Maprs28933390
PheGenIrs28933390
Biobankrs28933390
1000 genomesrs28933390
hgdprs28933390
ensemblrs28933390
geneviewrs28933390
scholarrs28933390
googlers28933390
pharmgkbrs28933390
gwascentralrs28933390
openSNPrs28933390
23andMers28933390
23andMe allrs28933390
SNPshotrs28933390
SNPdbers28933390
MSV3drs28933390
GWAS Ctlgrs28933390
GMAF0.003673
Max Magnitude4

(T;T) abolishes catalytic activity in BCHE according to annerwright

OMIM177400
DescBCHE, FLUORIDE 2
Variant0004
Relatedalso



ClinVar
Risk rs28933390(A;A) rs28933390(C;C) Rs28933390(T;T)
Alt rs28933390(A;A) rs28933390(C;C) Rs28933390(T;T)
Reference Rs28933390(G;G)
Significance Other
Disease BCHE Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN BCHE, fluoride 2 Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165547569C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014116.25, RCV000360109.1,




Pseudocholinesterase Deficiency