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rs747196387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747196387(A;A)
Make rs747196387(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830139
GeneBCHE
is asnp
is mentioned by
dbSNPrs747196387
dbSNP (classic)rs747196387
ClinGenrs747196387
ebirs747196387
HLIrs747196387
Exacrs747196387
Gnomadrs747196387
Varsomers747196387
LitVarrs747196387
Maprs747196387
PheGenIrs747196387
Biobankrs747196387
1000 genomesrs747196387
hgdprs747196387
ensemblrs747196387
geneviewrs747196387
scholarrs747196387
googlers747196387
pharmgkbrs747196387
gwascentralrs747196387
openSNPrs747196387
23andMers747196387
23andMe allrs747196387
SNPshotrs747196387
SNPdbers747196387
MSV3drs747196387
GWAS Ctlgrs747196387
Max Magnitude0
ClinVar
Risk rs747196387(A;A)
Alt rs747196387(A;A)
Reference Rs747196387(C;C)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165547927C>A
CLNSRC
CLNACC RCV000409335.1,