rs794726729

Orientation

minus

Stabilized

minus

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

Make rs794726729(-;-)

Make rs794726729(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166015680

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726729
dbSNP (classic)	rs794726729
ClinGen	rs794726729
ebi	rs794726729
HLI	rs794726729
Exac	rs794726729
Gnomad	rs794726729
Varsome	rs794726729
LitVar	rs794726729
Map	rs794726729
PheGenI	rs794726729
Biobank	rs794726729
1000 genomes	rs794726729
hgdp	rs794726729
ensembl	rs794726729
geneview	rs794726729
scholar	rs794726729
google	rs794726729
pharmgkb	rs794726729
gwascentral	rs794726729
openSNP	rs794726729
23andMe	rs794726729
SNPshot	rs794726729
SNPdbe	rs794726729
MSV3d	rs794726729
GWAS Ctlg	rs794726729

Max Magnitude

0

ClinVar
Risk	rs794726729(-;-)
Alt	rs794726729(-;-)
Reference	Rs794726729(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.166872190delG
CLNSRC	Peking University
CLNACC	RCV000180838.1,