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rs1057517221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517221(G;T)
Make rs1057517221(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165829851
GeneBCHE
is asnp
is mentioned by
dbSNPrs1057517221
dbSNP (classic)rs1057517221
ClinGenrs1057517221
ebirs1057517221
HLIrs1057517221
Exacrs1057517221
Gnomadrs1057517221
Varsomers1057517221
LitVarrs1057517221
Maprs1057517221
PheGenIrs1057517221
Biobankrs1057517221
1000 genomesrs1057517221
hgdprs1057517221
ensemblrs1057517221
geneviewrs1057517221
scholarrs1057517221
googlers1057517221
pharmgkbrs1057517221
gwascentralrs1057517221
openSNPrs1057517221
23andMers1057517221
23andMe allrs1057517221
SNPshotrs1057517221
SNPdbers1057517221
MSV3drs1057517221
GWAS Ctlgrs1057517221
Max Magnitude0
ClinVar
Risk rs1057517221(T;T)
Alt rs1057517221(T;T)
Reference Rs1057517221(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.165547639C>A
CLNSRC
CLNACC RCV000409809.1,