Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893684(C;C)
Make rs104893684(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position165830030
GeneBCHE
is asnp
is mentioned by
dbSNPrs104893684
ebirs104893684
HLIrs104893684
Exacrs104893684
Varsomers104893684
Maprs104893684
PheGenIrs104893684
hapmaprs104893684
1000 genomesrs104893684
hgdprs104893684
ensemblrs104893684
gopubmedrs104893684
geneviewrs104893684
scholarrs104893684
googlers104893684
pharmgkbrs104893684
gwascentralrs104893684
openSNPrs104893684
23andMers104893684
23andMe allrs104893684
SNP Nexus

SNPshotrs104893684
SNPdbers104893684
MSV3drs104893684
GWAS Ctlgrs104893684
Max Magnitude0
OMIM177400
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893684(C;C)
Alt rs104893684(C;C)
Reference rs104893684(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.165547818A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014132.17,