rs121917962

Orientation

minus

Stabilized

minus

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

Make rs121917962(A;G)

Make rs121917962(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165998129

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917962
dbSNP (classic)	rs121917962
ClinGen	rs121917962
ebi	rs121917962
HLI	rs121917962
Exac	rs121917962
Gnomad	rs121917962
Varsome	rs121917962
LitVar	rs121917962
Map	rs121917962
PheGenI	rs121917962
Biobank	rs121917962
1000 genomes	rs121917962
hgdp	rs121917962
ensembl	rs121917962
geneview	rs121917962
scholar	rs121917962
google	rs121917962
pharmgkb	rs121917962
gwascentral	rs121917962
openSNP	rs121917962
23andMe	rs121917962
SNPshot	rs121917962
SNPdbe	rs121917962
MSV3d	rs121917962
GWAS Ctlg	rs121917962

Max Magnitude

0

ClinVar
Risk	rs121917962(G;G)
Alt	rs121917962(G;G)
Reference	Rs121917962(A;A)
Significance	Untested
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166854639T>C
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059419.1,