rs121918556

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	3	Carrier of a BCHE gene J variant mutation

Make rs121918556(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165786255

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs121918556
dbSNP (classic)	rs121918556
ClinGen	rs121918556
ebi	rs121918556
HLI	rs121918556
Exac	rs121918556
Gnomad	rs121918556
Varsome	rs121918556
LitVar	rs121918556
Map	rs121918556
PheGenI	rs121918556
Biobank	rs121918556
1000 genomes	rs121918556
hgdp	rs121918556
ensembl	rs121918556
geneview	rs121918556
scholar	rs121918556
google	rs121918556
pharmgkb	rs121918556
gwascentral	rs121918556
openSNP	rs121918556
23andMe	rs121918556
SNPshot	rs121918556
SNPdbe	rs121918556
MSV3d	rs121918556
GWAS Ctlg	rs121918556

Max Magnitude

3

aka c.1574A>T (p.Glu525Val or E525V)

OMIM	177400
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918556(T;T)
Alt	rs121918556(T;T)
Reference	Rs121918556(A;A)
Significance	Pathogenic
Disease	Bche
Variation	info
Gene	BCHE
CLNDBN	Bche, j variant Bche, quantitative j variant
Reversed	1
HGVS	NC_000003.11:g.165504043T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014124.23, RCV000014125.23,