rs121917922

Orientation

minus

Stabilized

minus

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

Make rs121917922(C;G)

Make rs121917922(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992302

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917922
dbSNP (classic)	rs121917922
ClinGen	rs121917922
ebi	rs121917922
HLI	rs121917922
Exac	rs121917922
Gnomad	rs121917922
Varsome	rs121917922
LitVar	rs121917922
Map	rs121917922
PheGenI	rs121917922
Biobank	rs121917922
1000 genomes	rs121917922
hgdp	rs121917922
ensembl	rs121917922
geneview	rs121917922
scholar	rs121917922
google	rs121917922
pharmgkb	rs121917922
gwascentral	rs121917922
openSNP	rs121917922
23andMe	rs121917922
SNPshot	rs121917922
SNPdbe	rs121917922
MSV3d	rs121917922
GWAS Ctlg	rs121917922

Max Magnitude

0

ClinVar
Risk	rs121917922(G;G) rs121917922(T;T)
Alt	rs121917922(G;G) rs121917922(T;T)
Reference	Rs121917922(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848812G>A; NC_000002.11:g.166848812G>C
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059523.2, RCV000059435.1,