rs794726844

Orientation

minus

Stabilized

minus

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

Make rs794726844(A;G)

Make rs794726844(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166047751

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726844
dbSNP (classic)	rs794726844
ClinGen	rs794726844
ebi	rs794726844
HLI	rs794726844
Exac	rs794726844
Gnomad	rs794726844
Varsome	rs794726844
LitVar	rs794726844
Map	rs794726844
PheGenI	rs794726844
Biobank	rs794726844
1000 genomes	rs794726844
hgdp	rs794726844
ensembl	rs794726844
geneview	rs794726844
scholar	rs794726844
google	rs794726844
pharmgkb	rs794726844
gwascentral	rs794726844
openSNP	rs794726844
23andMe	rs794726844
SNPshot	rs794726844
SNPdbe	rs794726844
MSV3d	rs794726844
GWAS Ctlg	rs794726844

Max Magnitude

0

ClinVar
Risk	rs794726844(G;G)
Alt	rs794726844(G;G)
Reference	Rs794726844(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.166904261T>C
CLNSRC	Peking University
CLNACC	RCV000180974.1,