rs121917980

Orientation

minus

Stabilized

minus

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

Make rs121917980(A;A)

Make rs121917980(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165991928

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917980
dbSNP (classic)	rs121917980
ClinGen	rs121917980
ebi	rs121917980
HLI	rs121917980
Exac	rs121917980
Gnomad	rs121917980
Varsome	rs121917980
LitVar	rs121917980
Map	rs121917980
PheGenI	rs121917980
Biobank	rs121917980
1000 genomes	rs121917980
hgdp	rs121917980
ensembl	rs121917980
geneview	rs121917980
scholar	rs121917980
google	rs121917980
pharmgkb	rs121917980
gwascentral	rs121917980
openSNP	rs121917980
23andMe	rs121917980
SNPshot	rs121917980
SNPdbe	rs121917980
MSV3d	rs121917980
GWAS Ctlg	rs121917980

Max Magnitude

0

ClinVar
Risk	rs121917980(A;A)
Alt	rs121917980(A;A)
Reference	Rs121917980(G;G)
Significance	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.166848438C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059445.2, RCV000188999.2,