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rs140080572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140080572(A;A)
Make rs140080572(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830277
GeneBCHE
is asnp
is mentioned by
dbSNPrs140080572
dbSNP (classic)rs140080572
ClinGenrs140080572
ebirs140080572
HLIrs140080572
Exacrs140080572
Gnomadrs140080572
Varsomers140080572
LitVarrs140080572
Maprs140080572
PheGenIrs140080572
Biobankrs140080572
1000 genomesrs140080572
hgdprs140080572
ensemblrs140080572
geneviewrs140080572
scholarrs140080572
googlers140080572
pharmgkbrs140080572
gwascentralrs140080572
openSNPrs140080572
23andMers140080572
23andMe allrs140080572
SNPshotrs140080572
SNPdbers140080572
MSV3drs140080572
GWAS Ctlgrs140080572
Max Magnitude0
ClinVar
Risk rs140080572(A;A)
Alt rs140080572(A;A)
Reference Rs140080572(C;C)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548065C>A
CLNSRC
CLNACC RCV000411278.1,