rs794726749

Orientation

minus

Stabilized

minus

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

Make rs794726749(G;T)

Make rs794726749(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166045042

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726749
dbSNP (classic)	rs794726749
ClinGen	rs794726749
ebi	rs794726749
HLI	rs794726749
Exac	rs794726749
Gnomad	rs794726749
Varsome	rs794726749
LitVar	rs794726749
Map	rs794726749
PheGenI	rs794726749
Biobank	rs794726749
1000 genomes	rs794726749
hgdp	rs794726749
ensembl	rs794726749
geneview	rs794726749
scholar	rs794726749
google	rs794726749
pharmgkb	rs794726749
gwascentral	rs794726749
openSNP	rs794726749
23andMe	rs794726749
SNPshot	rs794726749
SNPdbe	rs794726749
MSV3d	rs794726749
GWAS Ctlg	rs794726749

Max Magnitude

0

ClinVar
Risk	rs794726749(T;T)
Alt	rs794726749(T;T)
Reference	Rs794726749(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.166901552C>A
CLNSRC	Peking University
CLNACC	RCV000180860.1,