rs1057517144

Orientation

minus

Stabilized

minus

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

Make rs1057517144(C;T)

Make rs1057517144(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

165786253

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs1057517144
dbSNP (classic)	rs1057517144
ClinGen	rs1057517144
ebi	rs1057517144
HLI	rs1057517144
Exac	rs1057517144
Gnomad	rs1057517144
Varsome	rs1057517144
LitVar	rs1057517144
Map	rs1057517144
PheGenI	rs1057517144
Biobank	rs1057517144
1000 genomes	rs1057517144
hgdp	rs1057517144
ensembl	rs1057517144
geneview	rs1057517144
scholar	rs1057517144
google	rs1057517144
pharmgkb	rs1057517144
gwascentral	rs1057517144
openSNP	rs1057517144
23andMe	rs1057517144
SNPshot	rs1057517144
SNPdbe	rs1057517144
MSV3d	rs1057517144
GWAS Ctlg	rs1057517144

Max Magnitude

0

ClinVar
Risk	rs1057517144(T;T)
Alt	rs1057517144(T;T)
Reference	Rs1057517144(C;C)
Significance	Probable-Pathogenic
Disease	Deficiency of butyrylcholine esterase
Variation	info
Gene	BCHE
CLNDBN	Deficiency of butyrylcholine esterase
Reversed	1
HGVS	NC_000003.11:g.165504041G>A
CLNSRC
CLNACC	RCV000411256.1,