rs769982050

Orientation

plus

Stabilized

plus

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

Make rs769982050(-;-)

Make rs769982050(-;G)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

15456012

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs769982050
dbSNP (classic)	rs769982050
ClinGen	rs769982050
ebi	rs769982050
HLI	rs769982050
Exac	rs769982050
Gnomad	rs769982050
Varsome	rs769982050
LitVar	rs769982050
Map	rs769982050
PheGenI	rs769982050
Biobank	rs769982050
1000 genomes	rs769982050
hgdp	rs769982050
ensembl	rs769982050
geneview	rs769982050
scholar	rs769982050
google	rs769982050
pharmgkb	rs769982050
gwascentral	rs769982050
openSNP	rs769982050
23andMe	rs769982050
SNPshot	rs769982050
SNPdbe	rs769982050
MSV3d	rs769982050
GWAS Ctlg	rs769982050

Max Magnitude

0

ClinVar
Risk	rs769982050(-;-)
Alt	rs769982050(-;-)
Reference	Rs769982050(G;G)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	0
HGVS	NC_000003.11:g.15497519delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007031.3,