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rs1057516482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516482(G;T)
Make rs1057516482(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165786301
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057516482
dbSNP (old)rs1057516482
ClinGenrs1057516482
ebirs1057516482
HLIrs1057516482
Exacrs1057516482
Gnomadrs1057516482
Varsomers1057516482
LitVarrs1057516482
Maprs1057516482
PheGenIrs1057516482
Biobankrs1057516482
1000 genomesrs1057516482
hgdprs1057516482
ensemblrs1057516482
gopubmedrs1057516482
geneviewrs1057516482
scholarrs1057516482
googlers1057516482
pharmgkbrs1057516482
gwascentralrs1057516482
openSNPrs1057516482
23andMers1057516482
23andMe allrs1057516482
SNPshotrs1057516482
SNPdbers1057516482
MSV3drs1057516482
GWAS Ctlgrs1057516482
Max Magnitude0
ClinVar
Risk rs1057516482(T;T)
Alt rs1057516482(T;T)
Reference Rs1057516482(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.165504089C>A
CLNSRC
CLNACC RCV000409949.1,