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rs772259613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTT;TCTT) 0 common in clinvar
Make rs772259613(-;-)
Make rs772259613(-;TCTT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830536
GeneBCHE
is asnp
is mentioned by
dbSNPrs772259613
dbSNP (classic)rs772259613
ClinGenrs772259613
ebirs772259613
HLIrs772259613
Exacrs772259613
Gnomadrs772259613
Varsomers772259613
LitVarrs772259613
Maprs772259613
PheGenIrs772259613
Biobankrs772259613
1000 genomesrs772259613
hgdprs772259613
ensemblrs772259613
geneviewrs772259613
scholarrs772259613
googlers772259613
pharmgkbrs772259613
gwascentralrs772259613
openSNPrs772259613
23andMers772259613
23andMe allrs772259613
SNPshotrs772259613
SNPdbers772259613
MSV3drs772259613
GWAS Ctlgrs772259613
Max Magnitude0
ClinVar
Risk rs772259613(-;-)
Alt rs772259613(-;-)
Reference Rs772259613(TCTT;TCTT)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548324_165548327delTCTT
CLNSRC
CLNACC RCV000409931.1,