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rs28933390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Pseudocholinesterase Deficiency carrier
(T;T) 4 Pseudocholinesterase Deficiency
ReferenceGRCh38 38.1/142
Chromosome3
Position165829781
GeneBCHE
is asnp
is mentioned by
dbSNPrs28933390
ebirs28933390
HLIrs28933390
Exacrs28933390
Varsomers28933390
Maprs28933390
PheGenIrs28933390
hapmaprs28933390
1000 genomesrs28933390
hgdprs28933390
ensemblrs28933390
gopubmedrs28933390
geneviewrs28933390
scholarrs28933390
googlers28933390
pharmgkbrs28933390
gwascentralrs28933390
openSNPrs28933390
23andMers28933390
23andMe allrs28933390
SNP Nexus

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
Neighborrs28933389
Distance441



ClinVar
Risk rs28933390(A,C,T;A,C,T)
Alt rs28933390(A,C,T;A,C,T)
Reference rs28933390(G;G)
Significance Pathogenic
Disease BCHE
Variation info
Gene BCHE
CLNDBN BCHE, fluoride 2
Reversed 1
HGVS NC_000003.11:g.165547569C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014116.25,



GET Evidence
BCHE-G418V
aa_change Gly418Val
aa_change_short G418V
impact pharmacogenetic
qualified_impact High clinical importance, pharmacogenetic
overall_frequency 0.00362521
summary This is the "flu-2" variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants.



Pseudocholinesterase Deficiency