rs121918558

Orientation

minus

Stabilized

minus

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

Make rs121918558(A;G)

Make rs121918558(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165830567

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs121918558
dbSNP (classic)	rs121918558
ClinGen	rs121918558
ebi	rs121918558
HLI	rs121918558
Exac	rs121918558
Gnomad	rs121918558
Varsome	rs121918558
LitVar	rs121918558
Map	rs121918558
PheGenI	rs121918558
Biobank	rs121918558
1000 genomes	rs121918558
hgdp	rs121918558
ensembl	rs121918558
geneview	rs121918558
scholar	rs121918558
google	rs121918558
pharmgkb	rs121918558
gwascentral	rs121918558
openSNP	rs121918558
23andMe	rs121918558
SNPshot	rs121918558
SNPdbe	rs121918558
MSV3d	rs121918558
GWAS Ctlg	rs121918558

Max Magnitude

0

OMIM	177400
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121918558(G;G) rs121918558(T;T)
Alt	rs121918558(G;G) rs121918558(T;T)
Reference	Rs121918558(A;A)
Significance	Pathogenic
Disease	Deficiency of butyrylcholine esterase
Variation	info
Gene	BCHE
CLNDBN	Deficiency of butyrylcholine esterase
Reversed	1
HGVS	NC_000003.11:g.165548355T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014131.24,