rs794726743

Orientation

minus

Stabilized

minus

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

Make rs794726743(G;T)

Make rs794726743(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166041385

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726743
dbSNP (classic)	rs794726743
ClinGen	rs794726743
ebi	rs794726743
HLI	rs794726743
Exac	rs794726743
Gnomad	rs794726743
Varsome	rs794726743
LitVar	rs794726743
Map	rs794726743
PheGenI	rs794726743
Biobank	rs794726743
1000 genomes	rs794726743
hgdp	rs794726743
ensembl	rs794726743
geneview	rs794726743
scholar	rs794726743
google	rs794726743
pharmgkb	rs794726743
gwascentral	rs794726743
openSNP	rs794726743
23andMe	rs794726743
SNPshot	rs794726743
SNPdbe	rs794726743
MSV3d	rs794726743
GWAS Ctlg	rs794726743

Max Magnitude

0

ClinVar
Risk	rs794726743(T;T)
Alt	rs794726743(T;T)
Reference	Rs794726743(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.166897895C>A
CLNSRC	Peking University
CLNACC	RCV000180853.1,