rs794726816

Orientation

minus

Stabilized

minus

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

Make rs794726816(A;G)

Make rs794726816(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166009843

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726816
dbSNP (classic)	rs794726816
ClinGen	rs794726816
ebi	rs794726816
HLI	rs794726816
Exac	rs794726816
Gnomad	rs794726816
Varsome	rs794726816
LitVar	rs794726816
Map	rs794726816
PheGenI	rs794726816
Biobank	rs794726816
1000 genomes	rs794726816
hgdp	rs794726816
ensembl	rs794726816
geneview	rs794726816
scholar	rs794726816
google	rs794726816
pharmgkb	rs794726816
gwascentral	rs794726816
openSNP	rs794726816
23andMe	rs794726816
SNPshot	rs794726816
SNPdbe	rs794726816
MSV3d	rs794726816
GWAS Ctlg	rs794726816

Max Magnitude

0

ClinVar
Risk	rs794726816(G;G)
Alt	rs794726816(G;G)
Reference	Rs794726816(A;A)
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.166866353T>C
CLNSRC	Peking University
CLNACC	RCV000180941.1,