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rs1057517439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517439(-;-)
Make rs1057517439(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830924
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517439
dbSNP (old)rs1057517439
ClinGenrs1057517439
ebirs1057517439
HLIrs1057517439
Exacrs1057517439
Gnomadrs1057517439
Varsomers1057517439
LitVarrs1057517439
Maprs1057517439
PheGenIrs1057517439
Biobankrs1057517439
1000 genomesrs1057517439
hgdprs1057517439
ensemblrs1057517439
gopubmedrs1057517439
geneviewrs1057517439
scholarrs1057517439
googlers1057517439
pharmgkbrs1057517439
gwascentralrs1057517439
openSNPrs1057517439
23andMers1057517439
23andMe allrs1057517439
SNPshotrs1057517439
SNPdbers1057517439
MSV3drs1057517439
GWAS Ctlgrs1057517439
Max Magnitude0
ClinVar
Risk rs1057517439(-;-)
Alt rs1057517439(-;-)
Reference Rs1057517439(A;A)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165548712delT
CLNSRC
CLNACC RCV000412019.1,