rs104893734

Orientation

minus

Stabilized

minus

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

Make rs104893734(C;G)

Make rs104893734(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15475447

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs104893734
dbSNP (classic)	rs104893734
ClinGen	rs104893734
ebi	rs104893734
HLI	rs104893734
Exac	rs104893734
Gnomad	rs104893734
Varsome	rs104893734
LitVar	rs104893734
Map	rs104893734
PheGenI	rs104893734
Biobank	rs104893734
1000 genomes	rs104893734
hgdp	rs104893734
ensembl	rs104893734
geneview	rs104893734
scholar	rs104893734
google	rs104893734
pharmgkb	rs104893734
gwascentral	rs104893734
openSNP	rs104893734
23andMe	rs104893734
SNPshot	rs104893734
SNPdbe	rs104893734
MSV3d	rs104893734
GWAS Ctlg	rs104893734

Max Magnitude

0

OMIM	603033
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893734(G;G)
Alt	rs104893734(G;G)
Reference	Rs104893734(C;C)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15516954G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007029.3,