rs1057516784

Orientation

minus

Stabilized

minus

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

Make rs1057516784(-;-)

Make rs1057516784(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

165830827

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs1057516784
dbSNP (classic)	rs1057516784
ClinGen	rs1057516784
ebi	rs1057516784
HLI	rs1057516784
Exac	rs1057516784
Gnomad	rs1057516784
Varsome	rs1057516784
LitVar	rs1057516784
Map	rs1057516784
PheGenI	rs1057516784
Biobank	rs1057516784
1000 genomes	rs1057516784
hgdp	rs1057516784
ensembl	rs1057516784
geneview	rs1057516784
scholar	rs1057516784
google	rs1057516784
pharmgkb	rs1057516784
gwascentral	rs1057516784
openSNP	rs1057516784
23andMe	rs1057516784
SNPshot	rs1057516784
SNPdbe	rs1057516784
MSV3d	rs1057516784
GWAS Ctlg	rs1057516784

Max Magnitude

0

ClinVar
Risk	rs1057516784(-;-)
Alt	rs1057516784(-;-)
Reference	Rs1057516784(TT;TT)
Significance	Probable-Pathogenic
Disease	Deficiency of butyrylcholine esterase
Variation	info
Gene	BCHE
CLNDBN	Deficiency of butyrylcholine esterase
Reversed	1
HGVS	NC_000003.11:g.165548615_165548616delAA
CLNSRC
CLNACC	RCV000409316.1,