rs794726723

Orientation

minus

Stabilized

minus

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

Make rs794726723(-;CT)

Make rs794726723(CT;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166009749

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726723
dbSNP (classic)	rs794726723
ClinGen	rs794726723
ebi	rs794726723
HLI	rs794726723
Exac	rs794726723
Gnomad	rs794726723
Varsome	rs794726723
LitVar	rs794726723
Map	rs794726723
PheGenI	rs794726723
Biobank	rs794726723
1000 genomes	rs794726723
hgdp	rs794726723
ensembl	rs794726723
geneview	rs794726723
scholar	rs794726723
google	rs794726723
pharmgkb	rs794726723
gwascentral	rs794726723
openSNP	rs794726723
23andMe	rs794726723
SNPshot	rs794726723
SNPdbe	rs794726723
MSV3d	rs794726723
GWAS Ctlg	rs794726723

Max Magnitude

0

ClinVar
Risk	rs794726723(CT;CT)
Alt	rs794726723(CT;CT)
Reference	Rs794726723(-;-)
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.166866260_166866261dupAG
CLNSRC	Peking University
CLNACC	RCV000180830.1,