rs121918740

Orientation

minus

Stabilized

minus

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

Make rs121918740(C;C)

Make rs121918740(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166012128

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918740
dbSNP (classic)	rs121918740
ClinGen	rs121918740
ebi	rs121918740
HLI	rs121918740
Exac	rs121918740
Gnomad	rs121918740
Varsome	rs121918740
LitVar	rs121918740
Map	rs121918740
PheGenI	rs121918740
Biobank	rs121918740
1000 genomes	rs121918740
hgdp	rs121918740
ensembl	rs121918740
geneview	rs121918740
scholar	rs121918740
google	rs121918740
pharmgkb	rs121918740
gwascentral	rs121918740
openSNP	rs121918740
23andMe	rs121918740
SNPshot	rs121918740
SNPdbe	rs121918740
MSV3d	rs121918740
GWAS Ctlg	rs121918740

Max Magnitude

0

ClinVar
Risk	rs121918740(C;C)
Alt	rs121918740(C;C)
Reference	Rs121918740(T;T)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166868638A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059502.2,