rs121917919

Orientation

minus

Stabilized

minus

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

Make rs121917919(C;C)

Make rs121917919(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165994236

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917919
dbSNP (classic)	rs121917919
ClinGen	rs121917919
ebi	rs121917919
HLI	rs121917919
Exac	rs121917919
Gnomad	rs121917919
Varsome	rs121917919
LitVar	rs121917919
Map	rs121917919
PheGenI	rs121917919
Biobank	rs121917919
1000 genomes	rs121917919
hgdp	rs121917919
ensembl	rs121917919
geneview	rs121917919
scholar	rs121917919
google	rs121917919
pharmgkb	rs121917919
gwascentral	rs121917919
openSNP	rs121917919
23andMe	rs121917919
SNPshot	rs121917919
SNPdbe	rs121917919
MSV3d	rs121917919
GWAS Ctlg	rs121917919

Max Magnitude

0

ClinVar
Risk	rs121917919(C;C)
Alt	rs121917919(C;C)
Reference	Rs121917919(T;T)
Significance	Probable-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.166850746A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059426.1, RCV000188974.3,