rs794726758

Orientation

minus

Stabilized

minus

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

Make rs794726758(-;-)

Make rs794726758(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165992272

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726758
dbSNP (classic)	rs794726758
ClinGen	rs794726758
ebi	rs794726758
HLI	rs794726758
Exac	rs794726758
Gnomad	rs794726758
Varsome	rs794726758
LitVar	rs794726758
Map	rs794726758
PheGenI	rs794726758
Biobank	rs794726758
1000 genomes	rs794726758
hgdp	rs794726758
ensembl	rs794726758
geneview	rs794726758
scholar	rs794726758
google	rs794726758
pharmgkb	rs794726758
gwascentral	rs794726758
openSNP	rs794726758
23andMe	rs794726758
SNPshot	rs794726758
SNPdbe	rs794726758
MSV3d	rs794726758
GWAS Ctlg	rs794726758

Max Magnitude

0

ClinVar
Risk	rs794726758(-;-)
Alt	rs794726758(-;-)
Reference	Rs794726758(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848782delG
CLNSRC	Peking University
CLNACC	RCV000180871.1,