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rs28933389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.1 Pseudocholinesterase Deficiency carrier
(T;T) 3.5 Pseudocholinesterase Deficiency
ReferenceGRCh38 38.1/142
Chromosome3
Position165830222
GeneBCHE
is asnp
is mentioned by
dbSNPrs28933389
dbSNP (classic)rs28933389
ClinGenrs28933389
ebirs28933389
HLIrs28933389
Exacrs28933389
Gnomadrs28933389
Varsomers28933389
LitVarrs28933389
Maprs28933389
PheGenIrs28933389
Biobankrs28933389
1000 genomesrs28933389
hgdprs28933389
ensemblrs28933389
geneviewrs28933389
scholarrs28933389
googlers28933389
pharmgkbrs28933389
gwascentralrs28933389
openSNPrs28933389
23andMers28933389
23andMe allrs28933389
SNPshotrs28933389
SNPdbers28933389
MSV3drs28933389
GWAS Ctlgrs28933389
GMAF0.0004591
Max Magnitude3.5

aka c.812C>T (p.Thr271Met or T271M)

(T;T) has a moderate change in BCHE activity according to annerwright

OMIM177400
DescBCHE, FLUORIDE 1
Variant0003
Relatedalso




ClinVar
Risk Rs28933389(T;T)
Alt Rs28933389(T;T)
Reference Rs28933389(C;C)
Significance Pathogenic
Disease Butyrylcholinesterase deficiency
Variation info
Gene BCHE
CLNDBN Butyrylcholinesterase deficiency, fluoride 1
Reversed 1
HGVS NC_000003.11:g.165548010G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014112.27,



Pseudocholinesterase Deficiency