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rs115624085

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs115624085(C;C)
Make rs115624085(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position165830150
GeneBCHE
is asnp
is mentioned by
dbSNPrs115624085
dbSNP (old)rs115624085
ClinGenrs115624085
ebirs115624085
HLIrs115624085
Exacrs115624085
Gnomadrs115624085
Varsomers115624085
Maprs115624085
PheGenIrs115624085
Biobankrs115624085
1000 genomesrs115624085
hgdprs115624085
ensemblrs115624085
gopubmedrs115624085
geneviewrs115624085
scholarrs115624085
googlers115624085
pharmgkbrs115624085
gwascentralrs115624085
openSNPrs115624085
23andMers115624085
23andMe allrs115624085
SNPshotrs115624085
SNPdbers115624085
MSV3drs115624085
GWAS Ctlgrs115624085
Max Magnitude0
ClinVar
Risk rs115624085(C;C)
Alt rs115624085(C;C)
Reference Rs115624085(T;T)
Significance Probable-Pathogenic
Disease Deficiency of butyrylcholine esterase
Variation info
Gene BCHE
CLNDBN Deficiency of butyrylcholine esterase
Reversed 0
HGVS NC_000003.11:g.165547938T>C
CLNSRC
CLNACC RCV000490369.1,