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rs1057517208

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517208(C;T)
Make rs1057517208(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830415
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517208
dbSNP (old)rs1057517208
ClinGenrs1057517208
ebirs1057517208
HLIrs1057517208
Exacrs1057517208
Gnomadrs1057517208
Varsomers1057517208
Maprs1057517208
PheGenIrs1057517208
Biobankrs1057517208
1000 genomesrs1057517208
hgdprs1057517208
ensemblrs1057517208
gopubmedrs1057517208
geneviewrs1057517208
scholarrs1057517208
googlers1057517208
pharmgkbrs1057517208
gwascentralrs1057517208
openSNPrs1057517208
23andMers1057517208
23andMe allrs1057517208
SNPshotrs1057517208
SNPdbers1057517208
MSV3drs1057517208
GWAS Ctlgrs1057517208
Max Magnitude0
ClinVar
Risk rs1057517208(T;T)
Alt rs1057517208(T;T)
Reference Rs1057517208(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.165548203G>A
CLNSRC
CLNACC RCV000412077.1,