rs121917976

Orientation

minus

Stabilized

minus

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

Make rs121917976(A;A)

Make rs121917976(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992341

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917976
dbSNP (classic)	rs121917976
ClinGen	rs121917976
ebi	rs121917976
HLI	rs121917976
Exac	rs121917976
Gnomad	rs121917976
Varsome	rs121917976
LitVar	rs121917976
Map	rs121917976
PheGenI	rs121917976
Biobank	rs121917976
1000 genomes	rs121917976
hgdp	rs121917976
ensembl	rs121917976
geneview	rs121917976
scholar	rs121917976
google	rs121917976
pharmgkb	rs121917976
gwascentral	rs121917976
openSNP	rs121917976
23andMe	rs121917976
SNPshot	rs121917976
SNPdbe	rs121917976
MSV3d	rs121917976
GWAS Ctlg	rs121917976

Max Magnitude

0

ClinVar
Risk	rs121917976(A;A) rs121917976(C;C)
Alt	rs121917976(A;A) rs121917976(C;C)
Reference	Rs121917976(G;G)
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.166848851C>G; NC_000002.11:g.166848851C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000180961.1, RCV000059432.1, RCV000188986.1,