rs121908922

Orientation

minus

Stabilized

minus

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

Make rs121908922(A;T)

Make rs121908922(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15458296

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs121908922
dbSNP (classic)	rs121908922
ClinGen	rs121908922
ebi	rs121908922
HLI	rs121908922
Exac	rs121908922
Gnomad	rs121908922
Varsome	rs121908922
LitVar	rs121908922
Map	rs121908922
PheGenI	rs121908922
Biobank	rs121908922
1000 genomes	rs121908922
hgdp	rs121908922
ensembl	rs121908922
geneview	rs121908922
scholar	rs121908922
google	rs121908922
pharmgkb	rs121908922
gwascentral	rs121908922
openSNP	rs121908922
23andMe	rs121908922
SNPshot	rs121908922
SNPdbe	rs121908922
MSV3d	rs121908922
GWAS Ctlg	rs121908922

Max Magnitude

0

OMIM	603033
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908922(T;T)
Alt	rs121908922(T;T)
Reference	Rs121908922(A;A)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15499803T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007030.3,