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rs778568717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs778568717(-;-)
Make rs778568717(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830241
GeneBCHE
is asnp
is mentioned by
dbSNPrs778568717
dbSNP (classic)rs778568717
ClinGenrs778568717
ebirs778568717
HLIrs778568717
Exacrs778568717
Gnomadrs778568717
Varsomers778568717
LitVarrs778568717
Maprs778568717
PheGenIrs778568717
Biobankrs778568717
1000 genomesrs778568717
hgdprs778568717
ensemblrs778568717
geneviewrs778568717
scholarrs778568717
googlers778568717
pharmgkbrs778568717
gwascentralrs778568717
openSNPrs778568717
23andMers778568717
23andMe allrs778568717
SNPshotrs778568717
SNPdbers778568717
MSV3drs778568717
GWAS Ctlgrs778568717
Max Magnitude0
ClinVar
Risk rs778568717(-;-)
Alt rs778568717(-;-)
Reference Rs778568717(A;A)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548029delA
CLNSRC
CLNACC RCV000410837.1,