rs794726719

Orientation

minus

Stabilized

minus

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

Make rs794726719(C;C)

Make rs794726719(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166052871

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726719
dbSNP (classic)	rs794726719
ClinGen	rs794726719
ebi	rs794726719
HLI	rs794726719
Exac	rs794726719
Gnomad	rs794726719
Varsome	rs794726719
LitVar	rs794726719
Map	rs794726719
PheGenI	rs794726719
Biobank	rs794726719
1000 genomes	rs794726719
hgdp	rs794726719
ensembl	rs794726719
geneview	rs794726719
scholar	rs794726719
google	rs794726719
pharmgkb	rs794726719
gwascentral	rs794726719
openSNP	rs794726719
23andMe	rs794726719
SNPshot	rs794726719
SNPdbe	rs794726719
MSV3d	rs794726719
GWAS Ctlg	rs794726719

Max Magnitude

0

ClinVar
Risk	rs794726719(C;C)
Alt	rs794726719(C;C)
Reference	Rs794726719(G;G)
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.166909381C>G
CLNSRC	Peking University
CLNACC	RCV000180824.1, RCV000428290.1,