rs104893733

Orientation

minus

Stabilized

minus

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

Make rs104893733(G;T)

Make rs104893733(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15470613

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs104893733
dbSNP (classic)	rs104893733
ClinGen	rs104893733
ebi	rs104893733
HLI	rs104893733
Exac	rs104893733
Gnomad	rs104893733
Varsome	rs104893733
LitVar	rs104893733
Map	rs104893733
PheGenI	rs104893733
Biobank	rs104893733
1000 genomes	rs104893733
hgdp	rs104893733
ensembl	rs104893733
geneview	rs104893733
scholar	rs104893733
google	rs104893733
pharmgkb	rs104893733
gwascentral	rs104893733
openSNP	rs104893733
23andMe	rs104893733
SNPshot	rs104893733
SNPdbe	rs104893733
MSV3d	rs104893733
GWAS Ctlg	rs104893733

Max Magnitude

0

OMIM	603033
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893733(T;T)
Alt	rs104893733(T;T)
Reference	Rs104893733(G;G)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15512120C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007028.3,