rs794726709

Orientation

minus

Stabilized

minus

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

Make rs794726709(-;-)

Make rs794726709(-;CTTCTAAAATG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166012176

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726709
dbSNP (classic)	rs794726709
ClinGen	rs794726709
ebi	rs794726709
HLI	rs794726709
Exac	rs794726709
Gnomad	rs794726709
Varsome	rs794726709
LitVar	rs794726709
Map	rs794726709
PheGenI	rs794726709
Biobank	rs794726709
1000 genomes	rs794726709
hgdp	rs794726709
ensembl	rs794726709
geneview	rs794726709
scholar	rs794726709
google	rs794726709
pharmgkb	rs794726709
gwascentral	rs794726709
openSNP	rs794726709
23andMe	rs794726709
SNPshot	rs794726709
SNPdbe	rs794726709
MSV3d	rs794726709
GWAS Ctlg	rs794726709

Max Magnitude

0

ClinVar
Risk	rs794726709(-;-)
Alt	rs794726709(-;-)
Reference	Rs794726709(CTTCTAAAATG;CTTCTAAAATG)
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.166868686_166868696delCATTTTAGAAG
CLNSRC	Peking University
CLNACC	RCV000180813.1,