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rs754214624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs754214624(-;T)
Make rs754214624(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830006
GeneBCHE
is asnp
is mentioned by
dbSNPrs754214624
dbSNP (classic)rs754214624
ClinGenrs754214624
ebirs754214624
HLIrs754214624
Exacrs754214624
Gnomadrs754214624
Varsomers754214624
LitVarrs754214624
Maprs754214624
PheGenIrs754214624
Biobankrs754214624
1000 genomesrs754214624
hgdprs754214624
ensemblrs754214624
geneviewrs754214624
scholarrs754214624
googlers754214624
pharmgkbrs754214624
gwascentralrs754214624
openSNPrs754214624
23andMers754214624
23andMe allrs754214624
SNPshotrs754214624
SNPdbers754214624
MSV3drs754214624
GWAS Ctlgrs754214624
Max Magnitude0
ClinVar
Risk rs754214624(T;T)
Alt rs754214624(T;T)
Reference Rs754214624(-;-)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165547795dupT
CLNSRC
CLNACC RCV000411348.1,