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rs121918558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918558(A;G)
Make rs121918558(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position165830567
GeneBCHE
is asnp
is mentioned by
dbSNPrs121918558
ebirs121918558
HLIrs121918558
Exacrs121918558
Varsomers121918558
Maprs121918558
PheGenIrs121918558
hapmaprs121918558
1000 genomesrs121918558
hgdprs121918558
ensemblrs121918558
gopubmedrs121918558
geneviewrs121918558
scholarrs121918558
googlers121918558
pharmgkbrs121918558
gwascentralrs121918558
openSNPrs121918558
23andMers121918558
23andMe allrs121918558
SNP Nexus

SNPshotrs121918558
SNPdbers121918558
MSV3drs121918558
GWAS Ctlgrs121918558
Max Magnitude0
OMIM177400
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918558(G,T;G,T)
Alt rs121918558(G,T;G,T)
Reference rs121918558(A;A)
Significance Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165548355T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014131.24,