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rs1057517265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517265(C;T)
Make rs1057517265(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830019
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517265
dbSNP (classic)rs1057517265
ClinGenrs1057517265
ebirs1057517265
HLIrs1057517265
Exacrs1057517265
Gnomadrs1057517265
Varsomers1057517265
LitVarrs1057517265
Maprs1057517265
PheGenIrs1057517265
Biobankrs1057517265
1000 genomesrs1057517265
hgdprs1057517265
ensemblrs1057517265
geneviewrs1057517265
scholarrs1057517265
googlers1057517265
pharmgkbrs1057517265
gwascentralrs1057517265
openSNPrs1057517265
23andMers1057517265
23andMe allrs1057517265
SNPshotrs1057517265
SNPdbers1057517265
MSV3drs1057517265
GWAS Ctlgrs1057517265
Max Magnitude0
ClinVar
Risk rs1057517265(T;T)
Alt rs1057517265(T;T)
Reference Rs1057517265(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.165547807G>A
CLNSRC
CLNACC RCV000412007.1,