rs121918768

Orientation

minus

Stabilized

minus

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

Make rs121918768(G;T)

Make rs121918768(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166046931

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918768
dbSNP (classic)	rs121918768
ClinGen	rs121918768
ebi	rs121918768
HLI	rs121918768
Exac	rs121918768
Gnomad	rs121918768
Varsome	rs121918768
LitVar	rs121918768
Map	rs121918768
PheGenI	rs121918768
Biobank	rs121918768
1000 genomes	rs121918768
hgdp	rs121918768
ensembl	rs121918768
geneview	rs121918768
scholar	rs121918768
google	rs121918768
pharmgkb	rs121918768
gwascentral	rs121918768
openSNP	rs121918768
23andMe	rs121918768
SNPshot	rs121918768
SNPdbe	rs121918768
MSV3d	rs121918768
GWAS Ctlg	rs121918768

Max Magnitude

0

ClinVar
Risk	rs121918768(T;T)
Alt	rs121918768(T;T)
Reference	Rs121918768(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not specified
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not specified
Reversed	1
HGVS	NC_000002.11:g.166903441C>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059463.2, RCV000180562.1,