rs794726799

Orientation

minus

Stabilized

minus

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

Make rs794726799(C;T)

Make rs794726799(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166047668

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726799
dbSNP (classic)	rs794726799
ClinGen	rs794726799
ebi	rs794726799
HLI	rs794726799
Exac	rs794726799
Gnomad	rs794726799
Varsome	rs794726799
LitVar	rs794726799
Map	rs794726799
PheGenI	rs794726799
Biobank	rs794726799
1000 genomes	rs794726799
hgdp	rs794726799
ensembl	rs794726799
geneview	rs794726799
scholar	rs794726799
google	rs794726799
pharmgkb	rs794726799
gwascentral	rs794726799
openSNP	rs794726799
23andMe	rs794726799
SNPshot	rs794726799
SNPdbe	rs794726799
MSV3d	rs794726799
GWAS Ctlg	rs794726799

Max Magnitude

0

ClinVar
Risk	rs794726799(T;T)
Alt	rs794726799(T;T)
Reference	Rs794726799(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166904178G>A
CLNSRC	Peking University
CLNACC	RCV000180917.1, RCV000423099.1,