rs794726698

Orientation

minus

Stabilized

minus

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

Make rs794726698(C;G)

Make rs794726698(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165992272

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726698
dbSNP (classic)	rs794726698
ClinGen	rs794726698
ebi	rs794726698
HLI	rs794726698
Exac	rs794726698
Gnomad	rs794726698
Varsome	rs794726698
LitVar	rs794726698
Map	rs794726698
PheGenI	rs794726698
Biobank	rs794726698
1000 genomes	rs794726698
hgdp	rs794726698
ensembl	rs794726698
geneview	rs794726698
scholar	rs794726698
google	rs794726698
pharmgkb	rs794726698
gwascentral	rs794726698
openSNP	rs794726698
23andMe	rs794726698
SNPshot	rs794726698
SNPdbe	rs794726698
MSV3d	rs794726698
GWAS Ctlg	rs794726698

Max Magnitude

0

ClinVar
Risk	rs794726698(G;G)
Alt	rs794726698(G;G)
Reference	Rs794726698(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.166848782G>C
CLNSRC	Peking University
CLNACC	RCV000180799.1,