rs1057516482

Orientation

minus

Stabilized

minus

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

Make rs1057516482(G;T)

Make rs1057516482(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

165786301

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs1057516482
dbSNP (classic)	rs1057516482
ClinGen	rs1057516482
ebi	rs1057516482
HLI	rs1057516482
Exac	rs1057516482
Gnomad	rs1057516482
Varsome	rs1057516482
LitVar	rs1057516482
Map	rs1057516482
PheGenI	rs1057516482
Biobank	rs1057516482
1000 genomes	rs1057516482
hgdp	rs1057516482
ensembl	rs1057516482
geneview	rs1057516482
scholar	rs1057516482
google	rs1057516482
pharmgkb	rs1057516482
gwascentral	rs1057516482
openSNP	rs1057516482
23andMe	rs1057516482
SNPshot	rs1057516482
SNPdbe	rs1057516482
MSV3d	rs1057516482
GWAS Ctlg	rs1057516482

Max Magnitude

0

ClinVar
Risk	rs1057516482(T;T)
Alt	rs1057516482(T;T)
Reference	Rs1057516482(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.165504089C>A
CLNSRC
CLNACC	RCV000409949.1,