rs794726733

Orientation

minus

Stabilized

minus

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

Make rs794726733(G;T)

Make rs794726733(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166015718

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726733
dbSNP (classic)	rs794726733
ClinGen	rs794726733
ebi	rs794726733
HLI	rs794726733
Exac	rs794726733
Gnomad	rs794726733
Varsome	rs794726733
LitVar	rs794726733
Map	rs794726733
PheGenI	rs794726733
Biobank	rs794726733
1000 genomes	rs794726733
hgdp	rs794726733
ensembl	rs794726733
geneview	rs794726733
scholar	rs794726733
google	rs794726733
pharmgkb	rs794726733
gwascentral	rs794726733
openSNP	rs794726733
23andMe	rs794726733
SNPshot	rs794726733
SNPdbe	rs794726733
MSV3d	rs794726733
GWAS Ctlg	rs794726733

Max Magnitude

0

ClinVar
Risk	rs794726733(T;T)
Alt	rs794726733(T;T)
Reference	Rs794726733(G;G)
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.166872228C>A
CLNSRC	Peking University
CLNACC	RCV000180841.1,