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rs779366544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs779366544(C;C)
Make rs779366544(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165773508
GeneBCHE
is asnp
is mentioned by
dbSNPrs779366544
dbSNP (classic)rs779366544
ClinGenrs779366544
ebirs779366544
HLIrs779366544
Exacrs779366544
Gnomadrs779366544
Varsomers779366544
LitVarrs779366544
Maprs779366544
PheGenIrs779366544
Biobankrs779366544
1000 genomesrs779366544
hgdprs779366544
ensemblrs779366544
geneviewrs779366544
scholarrs779366544
googlers779366544
pharmgkbrs779366544
gwascentralrs779366544
openSNPrs779366544
23andMers779366544
23andMe allrs779366544
SNPshotrs779366544
SNPdbers779366544
MSV3drs779366544
GWAS Ctlgrs779366544
Max Magnitude0
ClinVar
Risk rs779366544(C;C)
Alt rs779366544(C;C)
Reference Rs779366544(T;T)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165491296T>C
CLNSRC
CLNACC RCV000412448.1,