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rs121918557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918557(A;A)
Make rs121918557(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position165829962
GeneBCHE
is asnp
is mentioned by
dbSNPrs121918557
ebirs121918557
HLIrs121918557
Exacrs121918557
Varsomers121918557
Maprs121918557
PheGenIrs121918557
hapmaprs121918557
1000 genomesrs121918557
hgdprs121918557
ensemblrs121918557
gopubmedrs121918557
geneviewrs121918557
scholarrs121918557
googlers121918557
pharmgkbrs121918557
gwascentralrs121918557
openSNPrs121918557
23andMers121918557
23andMe allrs121918557
SNP Nexus

SNPshotrs121918557
SNPdbers121918557
MSV3drs121918557
GWAS Ctlgrs121918557
GMAF0.0004591
Max Magnitude0
OMIM177400
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918557(A;A)
Alt rs121918557(A;A)
Reference rs121918557(T;T)
Significance Pathogenic
Disease Butyrylcholinesterase deficiency
Variation info
Gene BCHE
CLNDBN Butyrylcholinesterase deficiency, fluoride-resistant, japanese type
Reversed 1
HGVS NC_000003.11:g.165547750A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014130.24,