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rs1057516496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516496(G;T)
Make rs1057516496(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165786144
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057516496
dbSNP (old)rs1057516496
ClinGenrs1057516496
ebirs1057516496
HLIrs1057516496
Exacrs1057516496
Gnomadrs1057516496
Varsomers1057516496
Maprs1057516496
PheGenIrs1057516496
Biobankrs1057516496
1000 genomesrs1057516496
hgdprs1057516496
ensemblrs1057516496
gopubmedrs1057516496
geneviewrs1057516496
scholarrs1057516496
googlers1057516496
pharmgkbrs1057516496
gwascentralrs1057516496
openSNPrs1057516496
23andMers1057516496
23andMe allrs1057516496
SNPshotrs1057516496
SNPdbers1057516496
MSV3drs1057516496
GWAS Ctlgrs1057516496
Max Magnitude0
ClinVar
Risk rs1057516496(T;T)
Alt rs1057516496(T;T)
Reference Rs1057516496(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.165503932C>A
CLNSRC
CLNACC RCV000410863.1,