rs886043239

Orientation

plus

Stabilized

plus

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

Chromosome

17

Position

4899324

Gene	C17orf107, CHRNE

is a	snp
is	mentioned by
dbSNP	rs886043239
dbSNP (classic)	rs886043239
ClinGen	rs886043239
ebi	rs886043239
HLI	rs886043239
Exac	rs886043239
Gnomad	rs886043239
Varsome	rs886043239
LitVar	rs886043239
Map	rs886043239
PheGenI	rs886043239
Biobank	rs886043239
1000 genomes	rs886043239
hgdp	rs886043239
ensembl	rs886043239
geneview	rs886043239
scholar	rs886043239
google	rs886043239
pharmgkb	rs886043239
gwascentral	rs886043239
openSNP	rs886043239
23andMe	rs886043239
SNPshot	rs886043239
SNPdbe	rs886043239
MSV3d	rs886043239
GWAS Ctlg	rs886043239

Max Magnitude

0

ClinVar
Risk	rs886043239(-;-)
Alt	rs886043239(-;-)
Reference	Rs886043239(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome Myasthenic syndrome Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4b, fast-channel Myasthenic syndrome, congenital, 4a, slow-channel Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed	0
HGVS	NC_000017.10:g.4802619delC
CLNSRC
CLNACC	RCV000263867.1, RCV000313170.1, RCV000367786.1,