rs121917921

Orientation

minus

Stabilized

minus

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

Make rs121917921(C;T)

Make rs121917921(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165991927

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917921
dbSNP (classic)	rs121917921
ClinGen	rs121917921
ebi	rs121917921
HLI	rs121917921
Exac	rs121917921
Gnomad	rs121917921
Varsome	rs121917921
LitVar	rs121917921
Map	rs121917921
PheGenI	rs121917921
Biobank	rs121917921
1000 genomes	rs121917921
hgdp	rs121917921
ensembl	rs121917921
geneview	rs121917921
scholar	rs121917921
google	rs121917921
pharmgkb	rs121917921
gwascentral	rs121917921
openSNP	rs121917921
23andMe	rs121917921
SNPshot	rs121917921
SNPdbe	rs121917921
MSV3d	rs121917921
GWAS Ctlg	rs121917921

Max Magnitude

0

ClinVar
Risk	rs121917921(T;T)
Alt	rs121917921(T;T)
Reference	Rs121917921(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166848437G>A
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059446.3, RCV000189000.2, RCV000331305.1,