rs121917978

Orientation

minus

Stabilized

minus

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

Make rs121917978(C;G)

Make rs121917978(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992113

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917978
dbSNP (classic)	rs121917978
ClinGen	rs121917978
ebi	rs121917978
HLI	rs121917978
Exac	rs121917978
Gnomad	rs121917978
Varsome	rs121917978
LitVar	rs121917978
Map	rs121917978
PheGenI	rs121917978
Biobank	rs121917978
1000 genomes	rs121917978
hgdp	rs121917978
ensembl	rs121917978
geneview	rs121917978
scholar	rs121917978
google	rs121917978
pharmgkb	rs121917978
gwascentral	rs121917978
openSNP	rs121917978
23andMe	rs121917978
SNPshot	rs121917978
SNPdbe	rs121917978
MSV3d	rs121917978
GWAS Ctlg	rs121917978

Max Magnitude

0

ClinVar
Risk	rs121917978(A;A) rs121917978(G;G)
Alt	rs121917978(A;A) rs121917978(G;G)
Reference	Rs121917978(C;C)
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.166848623G>C; NC_000002.11:g.166848623G>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059441.1, RCV000188993.2,