rs1057517218

Orientation

minus

Stabilized

minus

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

Make rs1057517218(G;T)

Make rs1057517218(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

165829516

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs1057517218
dbSNP (classic)	rs1057517218
ClinGen	rs1057517218
ebi	rs1057517218
HLI	rs1057517218
Exac	rs1057517218
Gnomad	rs1057517218
Varsome	rs1057517218
LitVar	rs1057517218
Map	rs1057517218
PheGenI	rs1057517218
Biobank	rs1057517218
1000 genomes	rs1057517218
hgdp	rs1057517218
ensembl	rs1057517218
geneview	rs1057517218
scholar	rs1057517218
google	rs1057517218
pharmgkb	rs1057517218
gwascentral	rs1057517218
openSNP	rs1057517218
23andMe	rs1057517218
SNPshot	rs1057517218
SNPdbe	rs1057517218
MSV3d	rs1057517218
GWAS Ctlg	rs1057517218

Max Magnitude

0

ClinVar
Risk	rs1057517218(T;T)
Alt	rs1057517218(T;T)
Reference	Rs1057517218(G;G)
Significance	Probable-Pathogenic
Disease	Deficiency of butyrylcholine esterase
Variation	info
Gene	BCHE
CLNDBN	Deficiency of butyrylcholine esterase
Reversed	1
HGVS	NC_000003.11:g.165547304C>A
CLNSRC
CLNACC	RCV000410375.1,