rs794726804

Orientation

minus

Stabilized

minus

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

Make rs794726804(A;A)

Make rs794726804(A;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165992169

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726804
dbSNP (classic)	rs794726804
ClinGen	rs794726804
ebi	rs794726804
HLI	rs794726804
Exac	rs794726804
Gnomad	rs794726804
Varsome	rs794726804
LitVar	rs794726804
Map	rs794726804
PheGenI	rs794726804
Biobank	rs794726804
1000 genomes	rs794726804
hgdp	rs794726804
ensembl	rs794726804
geneview	rs794726804
scholar	rs794726804
google	rs794726804
pharmgkb	rs794726804
gwascentral	rs794726804
openSNP	rs794726804
23andMe	rs794726804
SNPshot	rs794726804
SNPdbe	rs794726804
MSV3d	rs794726804
GWAS Ctlg	rs794726804

Max Magnitude

0

ClinVar
Risk	rs794726804(A;A)
Alt	rs794726804(A;A)
Reference	Rs794726804(T;T)
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.166848679A>T
CLNSRC	Peking University
CLNACC	RCV000180924.1,