rs121917995

Orientation

minus

Stabilized

minus

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

Make rs121917995(A;A)

Make rs121917995(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992368

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917995
dbSNP (classic)	rs121917995
ClinGen	rs121917995
ebi	rs121917995
HLI	rs121917995
Exac	rs121917995
Gnomad	rs121917995
Varsome	rs121917995
LitVar	rs121917995
Map	rs121917995
PheGenI	rs121917995
Biobank	rs121917995
1000 genomes	rs121917995
hgdp	rs121917995
ensembl	rs121917995
geneview	rs121917995
scholar	rs121917995
google	rs121917995
pharmgkb	rs121917995
gwascentral	rs121917995
openSNP	rs121917995
23andMe	rs121917995
SNPshot	rs121917995
SNPdbe	rs121917995
MSV3d	rs121917995
GWAS Ctlg	rs121917995

Max Magnitude

0

ClinVar
Risk	rs121917995(A;A)
Alt	rs121917995(A;A)
Reference	Rs121917995(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy Lennox-Gastaut type Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Epileptic encephalopathy Lennox-Gastaut type Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166848878C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059431.1, RCV000176634.1, RCV000310216.1, RCV000463147.1,