rs398123585

Orientation

minus

Stabilized

minus

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

Make rs398123585(C;T)

Make rs398123585(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166043875

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs398123585
dbSNP (classic)	rs398123585
ClinGen	rs398123585
ebi	rs398123585
HLI	rs398123585
Exac	rs398123585
Gnomad	rs398123585
Varsome	rs398123585
LitVar	rs398123585
Map	rs398123585
PheGenI	rs398123585
Biobank	rs398123585
1000 genomes	rs398123585
hgdp	rs398123585
ensembl	rs398123585
geneview	rs398123585
scholar	rs398123585
google	rs398123585
pharmgkb	rs398123585
gwascentral	rs398123585
openSNP	rs398123585
23andMe	rs398123585
SNPshot	rs398123585
SNPdbe	rs398123585
MSV3d	rs398123585
GWAS Ctlg	rs398123585

Max Magnitude

0

ClinVar
Risk	rs398123585(A;A) rs398123585(T;T)
Alt	rs398123585(A;A) rs398123585(T;T)
Reference	Rs398123585(C;C)
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.166900385G>A
CLNSRC	HGMD
CLNACC	RCV000079562.4, RCV000174048.3, RCV000255527.2,