rs104893735

Orientation

minus

Stabilized

minus

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

Make rs104893735(G;T)

Make rs104893735(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15466437

Gene

COLQ

is a	snp
is	mentioned by
dbSNP	rs104893735
dbSNP (classic)	rs104893735
ClinGen	rs104893735
ebi	rs104893735
HLI	rs104893735
Exac	rs104893735
Gnomad	rs104893735
Varsome	rs104893735
LitVar	rs104893735
Map	rs104893735
PheGenI	rs104893735
Biobank	rs104893735
1000 genomes	rs104893735
hgdp	rs104893735
ensembl	rs104893735
geneview	rs104893735
scholar	rs104893735
google	rs104893735
pharmgkb	rs104893735
gwascentral	rs104893735
openSNP	rs104893735
23andMe	rs104893735
SNPshot	rs104893735
SNPdbe	rs104893735
MSV3d	rs104893735
GWAS Ctlg	rs104893735

Max Magnitude

0

OMIM	603033
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893735(T;T)
Alt	rs104893735(T;T)
Reference	Rs104893735(G;G)
Significance	Pathogenic
Disease	Endplate acetylcholinesterase deficiency
Variation	info
Gene	COLQ
CLNDBN	Endplate acetylcholinesterase deficiency
Reversed	1
HGVS	NC_000003.11:g.15507944C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007036.4,