rs794726737

Orientation

minus

Stabilized

minus

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

Make rs794726737(C;C)

Make rs794726737(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165991495

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726737
dbSNP (classic)	rs794726737
ClinGen	rs794726737
ebi	rs794726737
HLI	rs794726737
Exac	rs794726737
Gnomad	rs794726737
Varsome	rs794726737
LitVar	rs794726737
Map	rs794726737
PheGenI	rs794726737
Biobank	rs794726737
1000 genomes	rs794726737
hgdp	rs794726737
ensembl	rs794726737
geneview	rs794726737
scholar	rs794726737
google	rs794726737
pharmgkb	rs794726737
gwascentral	rs794726737
openSNP	rs794726737
23andMe	rs794726737
SNPshot	rs794726737
SNPdbe	rs794726737
MSV3d	rs794726737
GWAS Ctlg	rs794726737

Max Magnitude

0

ClinVar
Risk	rs794726737(C;C)
Alt	rs794726737(C;C)
Reference	Rs794726737(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.166848005C>G
CLNSRC	Peking University
CLNACC	RCV000180845.1,