rs121909510

Orientation

minus

Stabilized

minus

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

Make rs121909510(A;C)

Make rs121909510(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4900860

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs121909510
dbSNP (classic)	rs121909510
ClinGen	rs121909510
ebi	rs121909510
HLI	rs121909510
Exac	rs121909510
Gnomad	rs121909510
Varsome	rs121909510
LitVar	rs121909510
Map	rs121909510
PheGenI	rs121909510
Biobank	rs121909510
1000 genomes	rs121909510
hgdp	rs121909510
ensembl	rs121909510
geneview	rs121909510
scholar	rs121909510
google	rs121909510
pharmgkb	rs121909510
gwascentral	rs121909510
openSNP	rs121909510
23andMe	rs121909510
SNPshot	rs121909510
SNPdbe	rs121909510
MSV3d	rs121909510
GWAS Ctlg	rs121909510

Max Magnitude

0

OMIM	100725
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909510(C;C)
Alt	rs121909510(C;C)
Reference	Rs121909510(A;A)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4a, slow-channel
Reversed	1
HGVS	NC_000017.10:g.4804155T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020011.28,