rs794726731

Orientation

minus

Stabilized

minus

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

Make rs794726731(A;A)

Make rs794726731(A;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166012160

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726731
dbSNP (classic)	rs794726731
ClinGen	rs794726731
ebi	rs794726731
HLI	rs794726731
Exac	rs794726731
Gnomad	rs794726731
Varsome	rs794726731
LitVar	rs794726731
Map	rs794726731
PheGenI	rs794726731
Biobank	rs794726731
1000 genomes	rs794726731
hgdp	rs794726731
ensembl	rs794726731
geneview	rs794726731
scholar	rs794726731
google	rs794726731
pharmgkb	rs794726731
gwascentral	rs794726731
openSNP	rs794726731
23andMe	rs794726731
SNPshot	rs794726731
SNPdbe	rs794726731
MSV3d	rs794726731
GWAS Ctlg	rs794726731

Max Magnitude

0

ClinVar
Risk	rs794726731(A;A)
Alt	rs794726731(A;A)
Reference	Rs794726731(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.166868670A>T
CLNSRC	Peking University
CLNACC	RCV000180839.1,