rs121912777

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121912777(A;A)

Make rs121912777(A;G)

Reference

GRCh37.p5 37.3/135

Chromosome

16

Position

55823661

Gene

CES1

is a	snp
is	mentioned by
dbSNP	rs121912777
dbSNP (classic)	rs121912777
ClinGen	rs121912777
ebi	rs121912777
HLI	rs121912777
Exac	rs121912777
Gnomad	rs121912777
Varsome	rs121912777
LitVar	rs121912777
Map	rs121912777
PheGenI	rs121912777
Biobank	rs121912777
1000 genomes	rs121912777
hgdp	rs121912777
ensembl	rs121912777
geneview	rs121912777
scholar	rs121912777
google	rs121912777
pharmgkb	rs121912777
gwascentral	rs121912777
openSNP	rs121912777
23andMe	rs121912777
SNPshot	rs121912777
SNPdbe	rs121912777
MSV3d	rs121912777
GWAS Ctlg	rs121912777

Max Magnitude

0

OMIM	114835
Desc
Variant	0001
Related	also

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

ClinVar
Risk	rs121912777(A;A) rs121912777(C;C) rs121912777(T;T)
Alt	rs121912777(A;A) rs121912777(C;C) rs121912777(T;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,