rs763258280

Orientation

plus

Stabilized

plus

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

Make rs763258280(-;-)

Make rs763258280(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

4898891

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs763258280
dbSNP (classic)	rs763258280
ClinGen	rs763258280
ebi	rs763258280
HLI	rs763258280
Exac	rs763258280
Gnomad	rs763258280
Varsome	rs763258280
LitVar	rs763258280
Map	rs763258280
PheGenI	rs763258280
Biobank	rs763258280
1000 genomes	rs763258280
hgdp	rs763258280
ensembl	rs763258280
geneview	rs763258280
scholar	rs763258280
google	rs763258280
pharmgkb	rs763258280
gwascentral	rs763258280
openSNP	rs763258280
23andMe	rs763258280
SNPshot	rs763258280
SNPdbe	rs763258280
MSV3d	rs763258280
GWAS Ctlg	rs763258280

Max Magnitude

0

ClinVar
Risk	rs763258280(-;-)
Alt	rs763258280(-;-)
Reference	Rs763258280(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome Congenital myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome
Reversed	0
HGVS	NC_000017.10:g.4802186delC
CLNSRC	CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC	RCV000020022.29, RCV000235026.1,