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rs1057517288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517288(-;-)
Make rs1057517288(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165829794
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517288
dbSNP (old)rs1057517288
ClinGenrs1057517288
ebirs1057517288
HLIrs1057517288
Exacrs1057517288
Gnomadrs1057517288
Varsomers1057517288
Maprs1057517288
PheGenIrs1057517288
Biobankrs1057517288
1000 genomesrs1057517288
hgdprs1057517288
ensemblrs1057517288
gopubmedrs1057517288
geneviewrs1057517288
scholarrs1057517288
googlers1057517288
pharmgkbrs1057517288
gwascentralrs1057517288
openSNPrs1057517288
23andMers1057517288
23andMe allrs1057517288
SNPshotrs1057517288
SNPdbers1057517288
MSV3drs1057517288
GWAS Ctlgrs1057517288
Max Magnitude0
ClinVar
Risk rs1057517288(-;-)
Alt rs1057517288(-;-)
Reference Rs1057517288(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.165547582delG
CLNSRC
CLNACC RCV000411420.1,