rs794726825

Orientation

minus

Stabilized

minus

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

Make rs794726825(-;-)

Make rs794726825(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165996040

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726825
dbSNP (classic)	rs794726825
ClinGen	rs794726825
ebi	rs794726825
HLI	rs794726825
Exac	rs794726825
Gnomad	rs794726825
Varsome	rs794726825
LitVar	rs794726825
Map	rs794726825
PheGenI	rs794726825
Biobank	rs794726825
1000 genomes	rs794726825
hgdp	rs794726825
ensembl	rs794726825
geneview	rs794726825
scholar	rs794726825
google	rs794726825
pharmgkb	rs794726825
gwascentral	rs794726825
openSNP	rs794726825
23andMe	rs794726825
SNPshot	rs794726825
SNPdbe	rs794726825
MSV3d	rs794726825
GWAS Ctlg	rs794726825

Max Magnitude

0

ClinVar
Risk	rs794726825(-;-)
Alt	rs794726825(-;-)
Reference	Rs794726825(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.166852550delT
CLNSRC	Peking University
CLNACC	RCV000180950.1,