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rs121912777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912777(A;A)
Make rs121912777(A;G)
ReferenceGRCh37.p5 37.3/135
Chromosome16
Position55857573
GeneCES1
is asnp
is mentioned by
dbSNPrs121912777
ebirs121912777
HLIrs121912777
Exacrs121912777
Varsomers121912777
Maprs121912777
PheGenIrs121912777
hapmaprs121912777
1000 genomesrs121912777
hgdprs121912777
ensemblrs121912777
gopubmedrs121912777
geneviewrs121912777
scholarrs121912777
googlers121912777
pharmgkbrs121912777
gwascentralrs121912777
openSNPrs121912777
23andMers121912777
23andMe allrs121912777
SNP Nexus

SNPshotrs121912777
SNPdbers121912777
MSV3drs121912777
GWAS Ctlgrs121912777
Max Magnitude0
OMIM114835
Desc
Variant0001
Relatedalso

[PMID 22588607] Carboxylesterase 1 Polymorphism Impairs Oseltamivir Bioactivation in Humans

ClinVar
Risk rs121912777(A,C,T;A,C,T)
Alt rs121912777(A,C,T;A,C,T)
Reference rs121912777(G;G)
Significance Pathogenic
Disease Carboxylesterase 1 deficiency
Variation info
Gene CES1
CLNDBN Carboxylesterase 1 deficiency
Reversed 1
HGVS NC_000016.9:g.55857573C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019168.27,