rs121917926

Orientation

minus

Stabilized

minus

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

Make rs121917926(C;C)

Make rs121917926(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992129

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917926
dbSNP (classic)	rs121917926
ClinGen	rs121917926
ebi	rs121917926
HLI	rs121917926
Exac	rs121917926
Gnomad	rs121917926
Varsome	rs121917926
LitVar	rs121917926
Map	rs121917926
PheGenI	rs121917926
Biobank	rs121917926
1000 genomes	rs121917926
hgdp	rs121917926
ensembl	rs121917926
geneview	rs121917926
scholar	rs121917926
google	rs121917926
pharmgkb	rs121917926
gwascentral	rs121917926
openSNP	rs121917926
23andMe	rs121917926
SNPshot	rs121917926
SNPdbe	rs121917926
MSV3d	rs121917926
GWAS Ctlg	rs121917926

Max Magnitude

0

ClinVar
Risk	rs121917926(C;C)
Alt	rs121917926(C;C)
Reference	Rs121917926(T;T)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166848639A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059440.1, RCV000188987.2,