rs121908923

Orientation

minus

Stabilized

minus

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

Make rs121908923(A;C)

Make rs121908923(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15453838

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs121908923
dbSNP (classic)	rs121908923
ClinGen	rs121908923
ebi	rs121908923
HLI	rs121908923
Exac	rs121908923
Gnomad	rs121908923
Varsome	rs121908923
LitVar	rs121908923
Map	rs121908923
PheGenI	rs121908923
Biobank	rs121908923
1000 genomes	rs121908923
hgdp	rs121908923
ensembl	rs121908923
geneview	rs121908923
scholar	rs121908923
google	rs121908923
pharmgkb	rs121908923
gwascentral	rs121908923
openSNP	rs121908923
23andMe	rs121908923
SNPshot	rs121908923
SNPdbe	rs121908923
MSV3d	rs121908923
GWAS Ctlg	rs121908923

Max Magnitude

0

OMIM	603033
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908923(C;C)
Alt	rs121908923(C;C)
Reference	Rs121908923(A;A)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15495345T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007033.3,