rs794726840

Orientation

minus

Stabilized

minus

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

Make rs794726840(C;C)

Make rs794726840(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166056410

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726840
dbSNP (classic)	rs794726840
ClinGen	rs794726840
ebi	rs794726840
HLI	rs794726840
Exac	rs794726840
Gnomad	rs794726840
Varsome	rs794726840
LitVar	rs794726840
Map	rs794726840
PheGenI	rs794726840
Biobank	rs794726840
1000 genomes	rs794726840
hgdp	rs794726840
ensembl	rs794726840
geneview	rs794726840
scholar	rs794726840
google	rs794726840
pharmgkb	rs794726840
gwascentral	rs794726840
openSNP	rs794726840
23andMe	rs794726840
SNPshot	rs794726840
SNPdbe	rs794726840
MSV3d	rs794726840
GWAS Ctlg	rs794726840

Max Magnitude

0

ClinVar
Risk	rs794726840(C;C)
Alt	rs794726840(C;C)
Reference	Rs794726840(G;G)
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.166912920C>G
CLNSRC	Peking University
CLNACC	RCV000180968.1,