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rs1057516450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516450(-;T)
Make rs1057516450(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165829960
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057516450
dbSNP (old)rs1057516450
ClinGenrs1057516450
ebirs1057516450
HLIrs1057516450
Exacrs1057516450
Gnomadrs1057516450
Varsomers1057516450
Maprs1057516450
PheGenIrs1057516450
Biobankrs1057516450
1000 genomesrs1057516450
hgdprs1057516450
ensemblrs1057516450
gopubmedrs1057516450
geneviewrs1057516450
scholarrs1057516450
googlers1057516450
pharmgkbrs1057516450
gwascentralrs1057516450
openSNPrs1057516450
23andMers1057516450
23andMe allrs1057516450
SNPshotrs1057516450
SNPdbers1057516450
MSV3drs1057516450
GWAS Ctlgrs1057516450
Max Magnitude0
ClinVar
Risk rs1057516450(T;T)
Alt rs1057516450(T;T)
Reference Rs1057516450(-;-)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165547749dupA
CLNSRC
CLNACC RCV000410462.1,