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rs1057516784

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516784(-;-)
Make rs1057516784(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830827
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057516784
dbSNP (old)rs1057516784
ClinGenrs1057516784
ebirs1057516784
HLIrs1057516784
Exacrs1057516784
Gnomadrs1057516784
Varsomers1057516784
Maprs1057516784
PheGenIrs1057516784
Biobankrs1057516784
1000 genomesrs1057516784
hgdprs1057516784
ensemblrs1057516784
gopubmedrs1057516784
geneviewrs1057516784
scholarrs1057516784
googlers1057516784
pharmgkbrs1057516784
gwascentralrs1057516784
openSNPrs1057516784
23andMers1057516784
23andMe allrs1057516784
SNPshotrs1057516784
SNPdbers1057516784
MSV3drs1057516784
GWAS Ctlgrs1057516784
Max Magnitude0
ClinVar
Risk rs1057516784(-;-)
Alt rs1057516784(-;-)
Reference Rs1057516784(TT;TT)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165548615_165548616delAA
CLNSRC
CLNACC RCV000409316.1,