rs794726794

Orientation

minus

Stabilized

minus

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

Make rs794726794(A;G)

Make rs794726794(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166039475

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726794
dbSNP (classic)	rs794726794
ClinGen	rs794726794
ebi	rs794726794
HLI	rs794726794
Exac	rs794726794
Gnomad	rs794726794
Varsome	rs794726794
LitVar	rs794726794
Map	rs794726794
PheGenI	rs794726794
Biobank	rs794726794
1000 genomes	rs794726794
hgdp	rs794726794
ensembl	rs794726794
geneview	rs794726794
scholar	rs794726794
google	rs794726794
pharmgkb	rs794726794
gwascentral	rs794726794
openSNP	rs794726794
23andMe	rs794726794
SNPshot	rs794726794
SNPdbe	rs794726794
MSV3d	rs794726794
GWAS Ctlg	rs794726794

Max Magnitude

0

ClinVar
Risk	rs794726794(G;G)
Alt	rs794726794(G;G)
Reference	Rs794726794(A;A)
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.166895985T>C
CLNSRC	Peking University
CLNACC	RCV000180911.1,