rs121909512

Orientation

minus

Stabilized

minus

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

Make rs121909512(C;T)

Make rs121909512(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4902010

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs121909512
dbSNP (classic)	rs121909512
ClinGen	rs121909512
ebi	rs121909512
HLI	rs121909512
Exac	rs121909512
Gnomad	rs121909512
Varsome	rs121909512
LitVar	rs121909512
Map	rs121909512
PheGenI	rs121909512
Biobank	rs121909512
1000 genomes	rs121909512
hgdp	rs121909512
ensembl	rs121909512
geneview	rs121909512
scholar	rs121909512
google	rs121909512
pharmgkb	rs121909512
gwascentral	rs121909512
openSNP	rs121909512
23andMe	rs121909512
SNPshot	rs121909512
SNPdbe	rs121909512
MSV3d	rs121909512
GWAS Ctlg	rs121909512

Max Magnitude

0

OMIM	100725
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909512(T;T)
Alt	rs121909512(T;T)
Reference	Rs121909512(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4b, fast-channel
Reversed	1
HGVS	NC_000017.10:g.4805305G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020014.29,