rs794726831

Orientation

minus

Stabilized

minus

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

Make rs794726831(A;T)

Make rs794726831(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166058573

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726831
dbSNP (classic)	rs794726831
ClinGen	rs794726831
ebi	rs794726831
HLI	rs794726831
Exac	rs794726831
Gnomad	rs794726831
Varsome	rs794726831
LitVar	rs794726831
Map	rs794726831
PheGenI	rs794726831
Biobank	rs794726831
1000 genomes	rs794726831
hgdp	rs794726831
ensembl	rs794726831
geneview	rs794726831
scholar	rs794726831
google	rs794726831
pharmgkb	rs794726831
gwascentral	rs794726831
openSNP	rs794726831
23andMe	rs794726831
SNPshot	rs794726831
SNPdbe	rs794726831
MSV3d	rs794726831
GWAS Ctlg	rs794726831

Max Magnitude

0

ClinVar
Risk	rs794726831(T;T)
Alt	rs794726831(T;T)
Reference	Rs794726831(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.166915083T>A
CLNSRC	Peking University
CLNACC	RCV000180958.1,