rs794726730

Orientation

minus

Stabilized

minus

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

Make rs794726730(C;T)

Make rs794726730(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166042334

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726730
dbSNP (classic)	rs794726730
ClinGen	rs794726730
ebi	rs794726730
HLI	rs794726730
Exac	rs794726730
Gnomad	rs794726730
Varsome	rs794726730
LitVar	rs794726730
Map	rs794726730
PheGenI	rs794726730
Biobank	rs794726730
1000 genomes	rs794726730
hgdp	rs794726730
ensembl	rs794726730
geneview	rs794726730
scholar	rs794726730
google	rs794726730
pharmgkb	rs794726730
gwascentral	rs794726730
openSNP	rs794726730
23andMe	rs794726730
SNPshot	rs794726730
SNPdbe	rs794726730
MSV3d	rs794726730
GWAS Ctlg	rs794726730

Max Magnitude

0

ClinVar
Risk	rs794726730(T;T)
Alt	rs794726730(T;T)
Reference	Rs794726730(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166898844G>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000174291.3, RCV000174292.1, RCV000188886.2,