rs794726847

Orientation

minus

Stabilized

minus

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

Make rs794726847(A;C)

Make rs794726847(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166051857

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726847
dbSNP (classic)	rs794726847
ClinGen	rs794726847
ebi	rs794726847
HLI	rs794726847
Exac	rs794726847
Gnomad	rs794726847
Varsome	rs794726847
LitVar	rs794726847
Map	rs794726847
PheGenI	rs794726847
Biobank	rs794726847
1000 genomes	rs794726847
hgdp	rs794726847
ensembl	rs794726847
geneview	rs794726847
scholar	rs794726847
google	rs794726847
pharmgkb	rs794726847
gwascentral	rs794726847
openSNP	rs794726847
23andMe	rs794726847
SNPshot	rs794726847
SNPdbe	rs794726847
MSV3d	rs794726847
GWAS Ctlg	rs794726847

Max Magnitude

0

ClinVar
Risk	rs794726847(C;C)
Alt	rs794726847(C;C)
Reference	Rs794726847(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.166908367T>G
CLNSRC	Peking University
CLNACC	RCV000180977.1,