rs794726781

Orientation

minus

Stabilized

minus

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

Make rs794726781(C;T)

Make rs794726781(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165991814

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726781
dbSNP (classic)	rs794726781
ClinGen	rs794726781
ebi	rs794726781
HLI	rs794726781
Exac	rs794726781
Gnomad	rs794726781
Varsome	rs794726781
LitVar	rs794726781
Map	rs794726781
PheGenI	rs794726781
Biobank	rs794726781
1000 genomes	rs794726781
hgdp	rs794726781
ensembl	rs794726781
geneview	rs794726781
scholar	rs794726781
google	rs794726781
pharmgkb	rs794726781
gwascentral	rs794726781
openSNP	rs794726781
23andMe	rs794726781
SNPshot	rs794726781
SNPdbe	rs794726781
MSV3d	rs794726781
GWAS Ctlg	rs794726781

Max Magnitude

0

ClinVar
Risk	rs794726781(T;T)
Alt	rs794726781(T;T)
Reference	Rs794726781(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848324G>A
CLNSRC	Peking University
CLNACC	RCV000180897.1,