rs397514459

Orientation

minus

Stabilized

minus

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

Make rs397514459(C;G)

Make rs397514459(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166039428

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs397514459
dbSNP (classic)	rs397514459
ClinGen	rs397514459
ebi	rs397514459
HLI	rs397514459
Exac	rs397514459
Gnomad	rs397514459
Varsome	rs397514459
LitVar	rs397514459
Map	rs397514459
PheGenI	rs397514459
Biobank	rs397514459
1000 genomes	rs397514459
hgdp	rs397514459
ensembl	rs397514459
geneview	rs397514459
scholar	rs397514459
google	rs397514459
pharmgkb	rs397514459
gwascentral	rs397514459
openSNP	rs397514459
23andMe	rs397514459
SNPshot	rs397514459
SNPdbe	rs397514459
MSV3d	rs397514459
GWAS Ctlg	rs397514459

Max Magnitude

0

ClinVar
Risk	rs397514459(G;G) rs397514459(T;T)
Alt	rs397514459(G;G) rs397514459(T;T)
Reference	Rs397514459(C;C)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166895938G>A; NC_000002.11:g.166895938G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000174713.1, RCV000174714.2, RCV000022765.24,