rs794726764

Orientation

minus

Stabilized

minus

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

Make rs794726764(C;G)

Make rs794726764(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166056501

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726764
dbSNP (classic)	rs794726764
ClinGen	rs794726764
ebi	rs794726764
HLI	rs794726764
Exac	rs794726764
Gnomad	rs794726764
Varsome	rs794726764
LitVar	rs794726764
Map	rs794726764
PheGenI	rs794726764
Biobank	rs794726764
1000 genomes	rs794726764
hgdp	rs794726764
ensembl	rs794726764
geneview	rs794726764
scholar	rs794726764
google	rs794726764
pharmgkb	rs794726764
gwascentral	rs794726764
openSNP	rs794726764
23andMe	rs794726764
SNPshot	rs794726764
SNPdbe	rs794726764
MSV3d	rs794726764
GWAS Ctlg	rs794726764

Max Magnitude

0

ClinVar
Risk	rs794726764(G;G)
Alt	rs794726764(G;G)
Reference	Rs794726764(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166913011G>C
CLNSRC	Peking University
CLNACC	RCV000180880.1,