rs398123595

Orientation

minus

Stabilized

minus

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

Make rs398123595(C;C)

Make rs398123595(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166002470

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs398123595
dbSNP (classic)	rs398123595
ClinGen	rs398123595
ebi	rs398123595
HLI	rs398123595
Exac	rs398123595
Gnomad	rs398123595
Varsome	rs398123595
LitVar	rs398123595
Map	rs398123595
PheGenI	rs398123595
Biobank	rs398123595
1000 genomes	rs398123595
hgdp	rs398123595
ensembl	rs398123595
geneview	rs398123595
scholar	rs398123595
google	rs398123595
pharmgkb	rs398123595
gwascentral	rs398123595
openSNP	rs398123595
23andMe	rs398123595
SNPshot	rs398123595
SNPdbe	rs398123595
MSV3d	rs398123595
GWAS Ctlg	rs398123595

Max Magnitude

0

ClinVar
Risk	rs398123595(C;C)
Alt	rs398123595(C;C)
Reference	Rs398123595(T;T)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166858980A>G
CLNSRC	HGMD
CLNACC	RCV000079583.4, RCV000176178.1,