rs121909517

Orientation

minus

Stabilized

minus

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

Make rs121909517(C;C)

Make rs121909517(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4899036

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs121909517
dbSNP (classic)	rs121909517
ClinGen	rs121909517
ebi	rs121909517
HLI	rs121909517
Exac	rs121909517
Gnomad	rs121909517
Varsome	rs121909517
LitVar	rs121909517
Map	rs121909517
PheGenI	rs121909517
Biobank	rs121909517
1000 genomes	rs121909517
hgdp	rs121909517
ensembl	rs121909517
geneview	rs121909517
scholar	rs121909517
google	rs121909517
pharmgkb	rs121909517
gwascentral	rs121909517
openSNP	rs121909517
23andMe	rs121909517
SNPshot	rs121909517
SNPdbe	rs121909517
MSV3d	rs121909517
GWAS Ctlg	rs121909517

Max Magnitude

0

OMIM	100725
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121909517(C;C) rs121909517(T;T)
Alt	rs121909517(C;C) rs121909517(T;T)
Reference	Rs121909517(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4b, fast-channel
Reversed	1
HGVS	NC_000017.10:g.4802331C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020029.29,