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rs1057516707

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516707(-;-)
Make rs1057516707(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830541
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057516707
dbSNP (old)rs1057516707
ClinGenrs1057516707
ebirs1057516707
HLIrs1057516707
Exacrs1057516707
Gnomadrs1057516707
Varsomers1057516707
Maprs1057516707
PheGenIrs1057516707
Biobankrs1057516707
1000 genomesrs1057516707
hgdprs1057516707
ensemblrs1057516707
gopubmedrs1057516707
geneviewrs1057516707
scholarrs1057516707
googlers1057516707
pharmgkbrs1057516707
gwascentralrs1057516707
openSNPrs1057516707
23andMers1057516707
23andMe allrs1057516707
SNPshotrs1057516707
SNPdbers1057516707
MSV3drs1057516707
GWAS Ctlgrs1057516707
Max Magnitude0
ClinVar
Risk rs1057516707(-;-)
Alt rs1057516707(-;-)
Reference Rs1057516707(G;G)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165548329delC
CLNSRC
CLNACC RCV000410237.1,


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