rs879253787

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	3	Carrier of an neuromuscular disorder mutation

Make rs879253787(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

1022313

Gene

AGRN

is a	snp
is	mentioned by
dbSNP	rs879253787
dbSNP (classic)	rs879253787
ClinGen	rs879253787
ebi	rs879253787
HLI	rs879253787
Exac	rs879253787
Gnomad	rs879253787
Varsome	rs879253787
LitVar	rs879253787
Map	rs879253787
PheGenI	rs879253787
Biobank	rs879253787
1000 genomes	rs879253787
hgdp	rs879253787
ensembl	rs879253787
geneview	rs879253787
scholar	rs879253787
google	rs879253787
pharmgkb	rs879253787
gwascentral	rs879253787
openSNP	rs879253787
23andMe	rs879253787
SNPshot	rs879253787
SNPdbe	rs879253787
MSV3d	rs879253787
GWAS Ctlg	rs879253787

Max Magnitude

3

ClinVar
Risk	rs879253787(T;T)
Alt	rs879253787(T;T)
Reference	Rs879253787(A;A)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	AGRN
CLNDBN	Congenital myasthenic syndrome
Reversed	0
HGVS	NC_000001.10:g.957693A>T
CLNSRC
CLNACC	RCV000235021.1,