rs121917960

Orientation

minus

Stabilized

minus

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

Make rs121917960(A;A)

Make rs121917960(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166002753

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917960
dbSNP (classic)	rs121917960
ClinGen	rs121917960
ebi	rs121917960
HLI	rs121917960
Exac	rs121917960
Gnomad	rs121917960
Varsome	rs121917960
LitVar	rs121917960
Map	rs121917960
PheGenI	rs121917960
Biobank	rs121917960
1000 genomes	rs121917960
hgdp	rs121917960
ensembl	rs121917960
geneview	rs121917960
scholar	rs121917960
google	rs121917960
pharmgkb	rs121917960
gwascentral	rs121917960
openSNP	rs121917960
23andMe	rs121917960
SNPshot	rs121917960
SNPdbe	rs121917960
MSV3d	rs121917960
GWAS Ctlg	rs121917960

Max Magnitude

0

ClinVar
Risk	rs121917960(A;A)
Alt	rs121917960(A;A)
Reference	Rs121917960(G;G)
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.166859263C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059408.2,