rs794726736

Orientation

minus

Stabilized

minus

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

Make rs794726736(C;T)

Make rs794726736(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166043974

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726736
dbSNP (classic)	rs794726736
ClinGen	rs794726736
ebi	rs794726736
HLI	rs794726736
Exac	rs794726736
Gnomad	rs794726736
Varsome	rs794726736
LitVar	rs794726736
Map	rs794726736
PheGenI	rs794726736
Biobank	rs794726736
1000 genomes	rs794726736
hgdp	rs794726736
ensembl	rs794726736
geneview	rs794726736
scholar	rs794726736
google	rs794726736
pharmgkb	rs794726736
gwascentral	rs794726736
openSNP	rs794726736
23andMe	rs794726736
SNPshot	rs794726736
SNPdbe	rs794726736
MSV3d	rs794726736
GWAS Ctlg	rs794726736

Max Magnitude

0

ClinVar
Risk	rs794726736(T;T)
Alt	rs794726736(T;T)
Reference	Rs794726736(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166900484G>A
CLNSRC	Peking University
CLNACC	RCV000180844.1, RCV000254957.1,