rs398122830

Orientation

minus

Stabilized

minus

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

Make rs398122830(-;-)

Make rs398122830(-;TCT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4900816

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs398122830
dbSNP (classic)	rs398122830
ClinGen	rs398122830
ebi	rs398122830
HLI	rs398122830
Exac	rs398122830
Gnomad	rs398122830
Varsome	rs398122830
LitVar	rs398122830
Map	rs398122830
PheGenI	rs398122830
Biobank	rs398122830
1000 genomes	rs398122830
hgdp	rs398122830
ensembl	rs398122830
geneview	rs398122830
scholar	rs398122830
google	rs398122830
pharmgkb	rs398122830
gwascentral	rs398122830
openSNP	rs398122830
23andMe	rs398122830
SNPshot	rs398122830
SNPdbe	rs398122830
MSV3d	rs398122830
GWAS Ctlg	rs398122830

Max Magnitude

0

ClinVar
Risk	rs398122830(-;-)
Alt	rs398122830(-;-)
Reference	Rs398122830(TCT;TCT)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4a, slow-channel
Reversed	1
HGVS	NC_000017.10:g.4804111_4804113delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033234.29,