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rs1057517144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517144(C;T)
Make rs1057517144(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165786253
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517144
dbSNP (old)rs1057517144
ClinGenrs1057517144
ebirs1057517144
HLIrs1057517144
Exacrs1057517144
Gnomadrs1057517144
Varsomers1057517144
LitVarrs1057517144
Maprs1057517144
PheGenIrs1057517144
Biobankrs1057517144
1000 genomesrs1057517144
hgdprs1057517144
ensemblrs1057517144
gopubmedrs1057517144
geneviewrs1057517144
scholarrs1057517144
googlers1057517144
pharmgkbrs1057517144
gwascentralrs1057517144
openSNPrs1057517144
23andMers1057517144
23andMe allrs1057517144
SNPshotrs1057517144
SNPdbers1057517144
MSV3drs1057517144
GWAS Ctlgrs1057517144
Max Magnitude0
ClinVar
Risk rs1057517144(T;T)
Alt rs1057517144(T;T)
Reference Rs1057517144(C;C)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165504041G>A
CLNSRC
CLNACC RCV000411256.1,