rs879253789

Orientation

minus

Stabilized

minus

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

Make rs879253789(C;T)

Make rs879253789(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

63941922

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs879253789
dbSNP (classic)	rs879253789
ClinGen	rs879253789
ebi	rs879253789
HLI	rs879253789
Exac	rs879253789
Gnomad	rs879253789
Varsome	rs879253789
LitVar	rs879253789
Map	rs879253789
PheGenI	rs879253789
Biobank	rs879253789
1000 genomes	rs879253789
hgdp	rs879253789
ensembl	rs879253789
geneview	rs879253789
scholar	rs879253789
google	rs879253789
pharmgkb	rs879253789
gwascentral	rs879253789
openSNP	rs879253789
23andMe	rs879253789
SNPshot	rs879253789
SNPdbe	rs879253789
MSV3d	rs879253789
GWAS Ctlg	rs879253789

Max Magnitude

0

ClinVar
Risk	rs879253789(T;T)
Alt	rs879253789(T;T)
Reference	Rs879253789(C;C)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	SCN4A
CLNDBN	Congenital myasthenic syndrome
Reversed	1
HGVS	NC_000017.10:g.62019282G>A
CLNSRC
CLNACC	RCV000235032.1,