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rs747983616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs747983616(-;-)
Make rs747983616(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830367
GeneBCHE
is asnp
is mentioned by
dbSNPrs747983616
dbSNP (classic)rs747983616
ClinGenrs747983616
ebirs747983616
HLIrs747983616
Exacrs747983616
Gnomadrs747983616
Varsomers747983616
LitVarrs747983616
Maprs747983616
PheGenIrs747983616
Biobankrs747983616
1000 genomesrs747983616
hgdprs747983616
ensemblrs747983616
geneviewrs747983616
scholarrs747983616
googlers747983616
pharmgkbrs747983616
gwascentralrs747983616
openSNPrs747983616
23andMers747983616
23andMe allrs747983616
SNPshotrs747983616
SNPdbers747983616
MSV3drs747983616
GWAS Ctlgrs747983616
Max Magnitude0
ClinVar
Risk rs747983616(-;-)
Alt rs747983616(-;-)
Reference Rs747983616(AG;AG)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165548155_165548156delAG
CLNSRC
CLNACC RCV000410506.1,