rs794726768

Orientation

minus

Stabilized

minus

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

Make rs794726768(A;G)

Make rs794726768(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166047749

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726768
dbSNP (classic)	rs794726768
ClinGen	rs794726768
ebi	rs794726768
HLI	rs794726768
Exac	rs794726768
Gnomad	rs794726768
Varsome	rs794726768
LitVar	rs794726768
Map	rs794726768
PheGenI	rs794726768
Biobank	rs794726768
1000 genomes	rs794726768
hgdp	rs794726768
ensembl	rs794726768
geneview	rs794726768
scholar	rs794726768
google	rs794726768
pharmgkb	rs794726768
gwascentral	rs794726768
openSNP	rs794726768
23andMe	rs794726768
SNPshot	rs794726768
SNPdbe	rs794726768
MSV3d	rs794726768
GWAS Ctlg	rs794726768

Max Magnitude

0

ClinVar
Risk	rs794726768(G;G)
Alt	rs794726768(G;G)
Reference	Rs794726768(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.166904259T>C
CLNSRC	Peking University
CLNACC	RCV000180884.1,