rs398123588

Orientation

minus

Stabilized

minus

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

Make rs398123588(A;A)

Make rs398123588(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166039436

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs398123588
dbSNP (classic)	rs398123588
ClinGen	rs398123588
ebi	rs398123588
HLI	rs398123588
Exac	rs398123588
Gnomad	rs398123588
Varsome	rs398123588
LitVar	rs398123588
Map	rs398123588
PheGenI	rs398123588
Biobank	rs398123588
1000 genomes	rs398123588
hgdp	rs398123588
ensembl	rs398123588
geneview	rs398123588
scholar	rs398123588
google	rs398123588
pharmgkb	rs398123588
gwascentral	rs398123588
openSNP	rs398123588
23andMe	rs398123588
SNPshot	rs398123588
SNPdbe	rs398123588
MSV3d	rs398123588
GWAS Ctlg	rs398123588

Max Magnitude

0

ClinVar
Risk	rs398123588(A;A)
Alt	rs398123588(A;A)
Reference	Rs398123588(G;G)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166895946C>T
CLNSRC	HGMD
CLNACC	RCV000079567.4, RCV000174715.1, RCV000255810.1,