rs121909516

Orientation

minus

Stabilized

minus

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

Make rs121909516(C;T)

Make rs121909516(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4901944

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs121909516
dbSNP (classic)	rs121909516
ClinGen	rs121909516
ebi	rs121909516
HLI	rs121909516
Exac	rs121909516
Gnomad	rs121909516
Varsome	rs121909516
LitVar	rs121909516
Map	rs121909516
PheGenI	rs121909516
Biobank	rs121909516
1000 genomes	rs121909516
hgdp	rs121909516
ensembl	rs121909516
geneview	rs121909516
scholar	rs121909516
google	rs121909516
pharmgkb	rs121909516
gwascentral	rs121909516
openSNP	rs121909516
23andMe	rs121909516
SNPshot	rs121909516
SNPdbe	rs121909516
MSV3d	rs121909516
GWAS Ctlg	rs121909516

GMAF

0.0004591

Max Magnitude

0

OMIM	100725
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121909516(G;G) rs121909516(T;T)
Alt	rs121909516(G;G) rs121909516(T;T)
Reference	Rs121909516(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome Congenital Myasthenic Syndrome not provided
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4b, fast-channel Congenital Myasthenic Syndrome, Dominant/Recessive not provided
Reversed	1
HGVS	NC_000017.10:g.4805239G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020028.28, RCV000356252.1, RCV000429916.1,