rs794726710

Orientation

minus

Stabilized

minus

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

Make rs794726710(C;T)

Make rs794726710(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166013812

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726710
dbSNP (classic)	rs794726710
ClinGen	rs794726710
ebi	rs794726710
HLI	rs794726710
Exac	rs794726710
Gnomad	rs794726710
Varsome	rs794726710
LitVar	rs794726710
Map	rs794726710
PheGenI	rs794726710
Biobank	rs794726710
1000 genomes	rs794726710
hgdp	rs794726710
ensembl	rs794726710
geneview	rs794726710
scholar	rs794726710
google	rs794726710
pharmgkb	rs794726710
gwascentral	rs794726710
openSNP	rs794726710
23andMe	rs794726710
SNPshot	rs794726710
SNPdbe	rs794726710
MSV3d	rs794726710
GWAS Ctlg	rs794726710

Max Magnitude

0

ClinVar
Risk	rs794726710(T;T)
Alt	rs794726710(T;T)
Reference	Rs794726710(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166870322G>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000180814.3, RCV000189082.2,