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rs1057517218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517218(G;T)
Make rs1057517218(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165829516
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517218
dbSNP (old)rs1057517218
ClinGenrs1057517218
ebirs1057517218
HLIrs1057517218
Exacrs1057517218
Gnomadrs1057517218
Varsomers1057517218
Maprs1057517218
PheGenIrs1057517218
Biobankrs1057517218
1000 genomesrs1057517218
hgdprs1057517218
ensemblrs1057517218
gopubmedrs1057517218
geneviewrs1057517218
scholarrs1057517218
googlers1057517218
pharmgkbrs1057517218
gwascentralrs1057517218
openSNPrs1057517218
23andMers1057517218
23andMe allrs1057517218
SNPshotrs1057517218
SNPdbers1057517218
MSV3drs1057517218
GWAS Ctlgrs1057517218
Max Magnitude0
ClinVar
Risk rs1057517218(T;T)
Alt rs1057517218(T;T)
Reference Rs1057517218(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.165547304C>A
CLNSRC
CLNACC RCV000410375.1,