rs794726720

Orientation

minus

Stabilized

minus

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

Make rs794726720(A;A)

Make rs794726720(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166013834

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726720
dbSNP (classic)	rs794726720
ClinGen	rs794726720
ebi	rs794726720
HLI	rs794726720
Exac	rs794726720
Gnomad	rs794726720
Varsome	rs794726720
LitVar	rs794726720
Map	rs794726720
PheGenI	rs794726720
Biobank	rs794726720
1000 genomes	rs794726720
hgdp	rs794726720
ensembl	rs794726720
geneview	rs794726720
scholar	rs794726720
google	rs794726720
pharmgkb	rs794726720
gwascentral	rs794726720
openSNP	rs794726720
23andMe	rs794726720
SNPshot	rs794726720
SNPdbe	rs794726720
MSV3d	rs794726720
GWAS Ctlg	rs794726720

Max Magnitude

0

ClinVar
Risk	rs794726720(A;A)
Alt	rs794726720(A;A)
Reference	Rs794726720(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.166870344C>T
CLNSRC	Peking University
CLNACC	RCV000180826.1,