rs121908924

Orientation

minus

Stabilized

minus

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

Make rs121908924(C;T)

Make rs121908924(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15458197

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs121908924
dbSNP (classic)	rs121908924
ClinGen	rs121908924
ebi	rs121908924
HLI	rs121908924
Exac	rs121908924
Gnomad	rs121908924
Varsome	rs121908924
LitVar	rs121908924
Map	rs121908924
PheGenI	rs121908924
Biobank	rs121908924
1000 genomes	rs121908924
hgdp	rs121908924
ensembl	rs121908924
geneview	rs121908924
scholar	rs121908924
google	rs121908924
pharmgkb	rs121908924
gwascentral	rs121908924
openSNP	rs121908924
23andMe	rs121908924
SNPshot	rs121908924
SNPdbe	rs121908924
MSV3d	rs121908924
GWAS Ctlg	rs121908924

Max Magnitude

0

OMIM	603033
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908924(T;T)
Alt	rs121908924(T;T)
Reference	Rs121908924(C;C)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15499704G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007034.3,