rs794726828

Orientation

minus

Stabilized

minus

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

Make rs794726828(A;A)

Make rs794726828(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166037793

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726828
dbSNP (classic)	rs794726828
ClinGen	rs794726828
ebi	rs794726828
HLI	rs794726828
Exac	rs794726828
Gnomad	rs794726828
Varsome	rs794726828
LitVar	rs794726828
Map	rs794726828
PheGenI	rs794726828
Biobank	rs794726828
1000 genomes	rs794726828
hgdp	rs794726828
ensembl	rs794726828
geneview	rs794726828
scholar	rs794726828
google	rs794726828
pharmgkb	rs794726828
gwascentral	rs794726828
openSNP	rs794726828
23andMe	rs794726828
SNPshot	rs794726828
SNPdbe	rs794726828
MSV3d	rs794726828
GWAS Ctlg	rs794726828

Max Magnitude

0

ClinVar
Risk	rs794726828(A;A)
Alt	rs794726828(A;A)
Reference	Rs794726828(G;G)
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.166894303C>T
CLNSRC	Peking University
CLNACC	RCV000180955.1,