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rs201820739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201820739(C;T)
Make rs201820739(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position165830606
GeneBCHE
is asnp
is mentioned by
dbSNPrs201820739
dbSNP (old)rs201820739
ClinGenrs201820739
ebirs201820739
HLIrs201820739
Exacrs201820739
Gnomadrs201820739
Varsomers201820739
Maprs201820739
PheGenIrs201820739
Biobankrs201820739
1000 genomesrs201820739
hgdprs201820739
ensemblrs201820739
gopubmedrs201820739
geneviewrs201820739
scholarrs201820739
googlers201820739
pharmgkbrs201820739
gwascentralrs201820739
openSNPrs201820739
23andMers201820739
23andMe allrs201820739
SNP Nexus

SNPshotrs201820739
SNPdbers201820739
MSV3drs201820739
GWAS Ctlgrs201820739
Max Magnitude0
[PMID 27120077OA-icon.png] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.
ClinVar
Risk rs201820739(T;T)
Alt rs201820739(T;T)
Reference Rs201820739(C;C)
Significance Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548394C>T
CLNSRC
CLNACC RCV000371428.1,