rs121917974

Orientation

minus

Stabilized

minus

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

Make rs121917974(C;C)

Make rs121917974(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165999740

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917974
dbSNP (classic)	rs121917974
ClinGen	rs121917974
ebi	rs121917974
HLI	rs121917974
Exac	rs121917974
Gnomad	rs121917974
Varsome	rs121917974
LitVar	rs121917974
Map	rs121917974
PheGenI	rs121917974
Biobank	rs121917974
1000 genomes	rs121917974
hgdp	rs121917974
ensembl	rs121917974
geneview	rs121917974
scholar	rs121917974
google	rs121917974
pharmgkb	rs121917974
gwascentral	rs121917974
openSNP	rs121917974
23andMe	rs121917974
SNPshot	rs121917974
SNPdbe	rs121917974
MSV3d	rs121917974
GWAS Ctlg	rs121917974

Max Magnitude

0

ClinVar
Risk	rs121917974(A;A) rs121917974(C;C)
Alt	rs121917974(A;A) rs121917974(C;C)
Reference	Rs121917974(G;G)
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.166856250C>G; NC_000002.11:g.166856250C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059417.1, RCV000413422.1,