rs121918741

Orientation

minus

Stabilized

minus

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

Make rs121918741(A;A)

Make rs121918741(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165999763

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918741
dbSNP (classic)	rs121918741
ClinGen	rs121918741
ebi	rs121918741
HLI	rs121918741
Exac	rs121918741
Gnomad	rs121918741
Varsome	rs121918741
LitVar	rs121918741
Map	rs121918741
PheGenI	rs121918741
Biobank	rs121918741
1000 genomes	rs121918741
hgdp	rs121918741
ensembl	rs121918741
geneview	rs121918741
scholar	rs121918741
google	rs121918741
pharmgkb	rs121918741
gwascentral	rs121918741
openSNP	rs121918741
23andMe	rs121918741
SNPshot	rs121918741
SNPdbe	rs121918741
MSV3d	rs121918741
GWAS Ctlg	rs121918741

Max Magnitude

0

ClinVar
Risk	rs121918741(A;A)
Alt	rs121918741(A;A)
Reference	Rs121918741(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.166856273C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059509.2,