rs121918783

Orientation

minus

Stabilized

minus

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

Make rs121918783(C;C)

Make rs121918783(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165991720

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918783
dbSNP (classic)	rs121918783
ClinGen	rs121918783
ebi	rs121918783
HLI	rs121918783
Exac	rs121918783
Gnomad	rs121918783
Varsome	rs121918783
LitVar	rs121918783
Map	rs121918783
PheGenI	rs121918783
Biobank	rs121918783
1000 genomes	rs121918783
hgdp	rs121918783
ensembl	rs121918783
geneview	rs121918783
scholar	rs121918783
google	rs121918783
pharmgkb	rs121918783
gwascentral	rs121918783
openSNP	rs121918783
23andMe	rs121918783
SNPshot	rs121918783
SNPdbe	rs121918783
MSV3d	rs121918783
GWAS Ctlg	rs121918783

Max Magnitude

0

ClinVar
Risk	rs121918783(C;C)
Alt	rs121918783(C;C)
Reference	Rs121918783(T;T)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848230A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059544.1, RCV000180879.1,