rs398123580

Orientation

minus

Stabilized

minus

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

Make rs398123580(-;-)

Make rs398123580(-;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166047635

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs398123580
dbSNP (classic)	rs398123580
ClinGen	rs398123580
ebi	rs398123580
HLI	rs398123580
Exac	rs398123580
Gnomad	rs398123580
Varsome	rs398123580
LitVar	rs398123580
Map	rs398123580
PheGenI	rs398123580
Biobank	rs398123580
1000 genomes	rs398123580
hgdp	rs398123580
ensembl	rs398123580
geneview	rs398123580
scholar	rs398123580
google	rs398123580
pharmgkb	rs398123580
gwascentral	rs398123580
openSNP	rs398123580
23andMe	rs398123580
SNPshot	rs398123580
SNPdbe	rs398123580
MSV3d	rs398123580
GWAS Ctlg	rs398123580

Max Magnitude

0

ClinVar
Risk	rs398123580(-;-)
Alt	rs398123580(-;-)
Reference	Rs398123580(T;T)
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.166904145delA
CLNSRC	ClinVar
CLNACC	RCV000079552.4, RCV000180210.1,