rs121917949

Orientation

minus

Stabilized

minus

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

Make rs121917949(G;G)

Make rs121917949(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165992134

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917949
dbSNP (classic)	rs121917949
ClinGen	rs121917949
ebi	rs121917949
HLI	rs121917949
Exac	rs121917949
Gnomad	rs121917949
Varsome	rs121917949
LitVar	rs121917949
Map	rs121917949
PheGenI	rs121917949
Biobank	rs121917949
1000 genomes	rs121917949
hgdp	rs121917949
ensembl	rs121917949
geneview	rs121917949
scholar	rs121917949
google	rs121917949
pharmgkb	rs121917949
gwascentral	rs121917949
openSNP	rs121917949
23andMe	rs121917949
SNPshot	rs121917949
SNPdbe	rs121917949
MSV3d	rs121917949
GWAS Ctlg	rs121917949

Max Magnitude

0

ClinVar
Risk	rs121917949(C;C) rs121917949(G;G)
Alt	rs121917949(C;C) rs121917949(G;G)
Reference	Rs121917949(T;T)
Significance	Probable-Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166848644A>C; NC_000002.11:g.166848644A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059439.1, RCV000079588.4, RCV000176631.1,