rs794726744

Orientation

minus

Stabilized

minus

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

Make rs794726744(A;A)

Make rs794726744(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166013743

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726744
dbSNP (classic)	rs794726744
ClinGen	rs794726744
ebi	rs794726744
HLI	rs794726744
Exac	rs794726744
Gnomad	rs794726744
Varsome	rs794726744
LitVar	rs794726744
Map	rs794726744
PheGenI	rs794726744
Biobank	rs794726744
1000 genomes	rs794726744
hgdp	rs794726744
ensembl	rs794726744
geneview	rs794726744
scholar	rs794726744
google	rs794726744
pharmgkb	rs794726744
gwascentral	rs794726744
openSNP	rs794726744
23andMe	rs794726744
SNPshot	rs794726744
SNPdbe	rs794726744
MSV3d	rs794726744
GWAS Ctlg	rs794726744

Max Magnitude

0

ClinVar
Risk	rs794726744(A;A)
Alt	rs794726744(A;A)
Reference	Rs794726744(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.166870253C>T
CLNSRC	Peking University
CLNACC	RCV000180854.1,