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rs398124632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124632(AG;AG)
Make rs398124632(AG;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position165830599
GeneBCHE
is asnp
is mentioned by
dbSNPrs398124632
ebirs398124632
HLIrs398124632
Exacrs398124632
Varsomers398124632
Maprs398124632
PheGenIrs398124632
hapmaprs398124632
1000 genomesrs398124632
hgdprs398124632
ensemblrs398124632
gopubmedrs398124632
geneviewrs398124632
scholarrs398124632
googlers398124632
pharmgkbrs398124632
gwascentralrs398124632
openSNPrs398124632
23andMers398124632
23andMe allrs398124632
SNP Nexus

SNPshotrs398124632
SNPdbers398124632
MSV3drs398124632
GWAS Ctlgrs398124632
Max Magnitude0
ClinVar
Risk rs398124632(AG;AG)
Alt rs398124632(AG;AG)
Reference rs398124632(T;T)
Significance Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 1
HGVS NC_000003.11:g.165548387delAinsCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000014106.26,