rs794727337

Orientation

minus

Stabilized

minus

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

Make rs794727337(A;A)

Make rs794727337(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166002532

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794727337
dbSNP (classic)	rs794727337
ClinGen	rs794727337
ebi	rs794727337
HLI	rs794727337
Exac	rs794727337
Gnomad	rs794727337
Varsome	rs794727337
LitVar	rs794727337
Map	rs794727337
PheGenI	rs794727337
Biobank	rs794727337
1000 genomes	rs794727337
hgdp	rs794727337
ensembl	rs794727337
geneview	rs794727337
scholar	rs794727337
google	rs794727337
pharmgkb	rs794727337
gwascentral	rs794727337
openSNP	rs794727337
23andMe	rs794727337
SNPshot	rs794727337
SNPdbe	rs794727337
MSV3d	rs794727337
GWAS Ctlg	rs794727337

Max Magnitude

0

ClinVar
Risk	rs794727337(A;A)
Alt	rs794727337(A;A)
Reference	Rs794727337(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166859042C>T
CLNSRC
CLNACC	RCV000176175.1, RCV000324634.1,