rs794726707

Orientation

minus

Stabilized

minus

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

Make rs794726707(A;A)

Make rs794726707(A;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166002668

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726707
dbSNP (classic)	rs794726707
ClinGen	rs794726707
ebi	rs794726707
HLI	rs794726707
Exac	rs794726707
Gnomad	rs794726707
Varsome	rs794726707
LitVar	rs794726707
Map	rs794726707
PheGenI	rs794726707
Biobank	rs794726707
1000 genomes	rs794726707
hgdp	rs794726707
ensembl	rs794726707
geneview	rs794726707
scholar	rs794726707
google	rs794726707
pharmgkb	rs794726707
gwascentral	rs794726707
openSNP	rs794726707
23andMe	rs794726707
SNPshot	rs794726707
SNPdbe	rs794726707
MSV3d	rs794726707
GWAS Ctlg	rs794726707

Max Magnitude

0

ClinVar
Risk	rs794726707(A;A)
Alt	rs794726707(A;A)
Reference	Rs794726707(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.166859178A>T
CLNSRC	Peking University
CLNACC	RCV000180810.1,