rs121917981

Orientation

minus

Stabilized

minus

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

Make rs121917981(C;C)

Make rs121917981(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165991510

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917981
dbSNP (classic)	rs121917981
ClinGen	rs121917981
ebi	rs121917981
HLI	rs121917981
Exac	rs121917981
Gnomad	rs121917981
Varsome	rs121917981
LitVar	rs121917981
Map	rs121917981
PheGenI	rs121917981
Biobank	rs121917981
1000 genomes	rs121917981
hgdp	rs121917981
ensembl	rs121917981
geneview	rs121917981
scholar	rs121917981
google	rs121917981
pharmgkb	rs121917981
gwascentral	rs121917981
openSNP	rs121917981
23andMe	rs121917981
SNPshot	rs121917981
SNPdbe	rs121917981
MSV3d	rs121917981
GWAS Ctlg	rs121917981

Max Magnitude

0

ClinVar
Risk	rs121917981(C;C) rs121917981(G;G)
Alt	rs121917981(C;C) rs121917981(G;G)
Reference	Rs121917981(T;T)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Early infantile epileptic encephalopathy Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166848020A>C; NC_000002.11:g.166848020A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000466422.1, RCV000059449.1, RCV000189020.1,