rs879253723

Orientation

minus

Stabilized

minus

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

Make rs879253723(-;-)

Make rs879253723(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

4899470

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs879253723
dbSNP (classic)	rs879253723
ClinGen	rs879253723
ebi	rs879253723
HLI	rs879253723
Exac	rs879253723
Gnomad	rs879253723
Varsome	rs879253723
LitVar	rs879253723
Map	rs879253723
PheGenI	rs879253723
Biobank	rs879253723
1000 genomes	rs879253723
hgdp	rs879253723
ensembl	rs879253723
geneview	rs879253723
scholar	rs879253723
google	rs879253723
pharmgkb	rs879253723
gwascentral	rs879253723
openSNP	rs879253723
23andMe	rs879253723
SNPshot	rs879253723
SNPdbe	rs879253723
MSV3d	rs879253723
GWAS Ctlg	rs879253723

Max Magnitude

0

ClinVar
Risk	rs879253723(-;-)
Alt	rs879253723(-;-)
Reference	Rs879253723(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed	1
HGVS	NC_000017.10:g.4802765delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020018.28,