rs28999110

Orientation

minus

Stabilized

minus

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

Make rs28999110(C;T)

Make rs28999110(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4901071

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs28999110
dbSNP (classic)	rs28999110
ClinGen	rs28999110
ebi	rs28999110
HLI	rs28999110
Exac	rs28999110
Gnomad	rs28999110
Varsome	rs28999110
LitVar	rs28999110
Map	rs28999110
PheGenI	rs28999110
Biobank	rs28999110
1000 genomes	rs28999110
hgdp	rs28999110
ensembl	rs28999110
geneview	rs28999110
scholar	rs28999110
google	rs28999110
pharmgkb	rs28999110
gwascentral	rs28999110
openSNP	rs28999110
23andMe	rs28999110
SNPshot	rs28999110
SNPdbe	rs28999110
MSV3d	rs28999110
GWAS Ctlg	rs28999110

Max Magnitude

0

OMIM	100725
Desc	MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
Variant	0010
Related	also

ClinVar
Risk	rs28999110(T;T)
Alt	rs28999110(T;T)
Reference	Rs28999110(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4a, slow-channel
Reversed	1
HGVS	NC_000017.10:g.4804366G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020020.28,