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rs114706984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114706984(A;A)
Make rs114706984(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830399
GeneBCHE
is asnp
is mentioned by
dbSNPrs114706984
dbSNP (old)rs114706984
ClinGenrs114706984
ebirs114706984
HLIrs114706984
Exacrs114706984
Gnomadrs114706984
Varsomers114706984
LitVarrs114706984
Maprs114706984
PheGenIrs114706984
Biobankrs114706984
1000 genomesrs114706984
hgdprs114706984
ensemblrs114706984
gopubmedrs114706984
geneviewrs114706984
scholarrs114706984
googlers114706984
pharmgkbrs114706984
gwascentralrs114706984
openSNPrs114706984
23andMers114706984
23andMe allrs114706984
SNPshotrs114706984
SNPdbers114706984
MSV3drs114706984
GWAS Ctlgrs114706984
Max Magnitude0
ClinVar
Risk rs114706984(A;A)
Alt rs114706984(A;A)
Reference Rs114706984(G;G)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548187G>A
CLNSRC
CLNACC RCV000412062.1,