rs794726734

Orientation

minus

Stabilized

minus

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

Make rs794726734(A;C)

Make rs794726734(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165999719

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726734
dbSNP (classic)	rs794726734
ClinGen	rs794726734
ebi	rs794726734
HLI	rs794726734
Exac	rs794726734
Gnomad	rs794726734
Varsome	rs794726734
LitVar	rs794726734
Map	rs794726734
PheGenI	rs794726734
Biobank	rs794726734
1000 genomes	rs794726734
hgdp	rs794726734
ensembl	rs794726734
geneview	rs794726734
scholar	rs794726734
google	rs794726734
pharmgkb	rs794726734
gwascentral	rs794726734
openSNP	rs794726734
23andMe	rs794726734
SNPshot	rs794726734
SNPdbe	rs794726734
MSV3d	rs794726734
GWAS Ctlg	rs794726734

Max Magnitude

0

ClinVar
Risk	rs794726734(C;C)
Alt	rs794726734(C;C)
Reference	Rs794726734(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.166856229T>G
CLNSRC	Peking University
CLNACC	RCV000180842.1,