rs121917954

Orientation

minus

Stabilized

minus

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

Make rs121917954(C;C)

Make rs121917954(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166002699

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917954
dbSNP (classic)	rs121917954
ClinGen	rs121917954
ebi	rs121917954
HLI	rs121917954
Exac	rs121917954
Gnomad	rs121917954
Varsome	rs121917954
LitVar	rs121917954
Map	rs121917954
PheGenI	rs121917954
Biobank	rs121917954
1000 genomes	rs121917954
hgdp	rs121917954
ensembl	rs121917954
geneview	rs121917954
scholar	rs121917954
google	rs121917954
pharmgkb	rs121917954
gwascentral	rs121917954
openSNP	rs121917954
23andMe	rs121917954
SNPshot	rs121917954
SNPdbe	rs121917954
MSV3d	rs121917954
GWAS Ctlg	rs121917954

Max Magnitude

0

OMIM	182389
Desc
Variant	0004
Related	also

OMIM	604233
Desc
Variant
Related	also

ClinVar
Risk	rs121917954(C;C)
Alt	rs121917954(C;C)
Reference	Rs121917954(G;G)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1
Reversed	1
HGVS	NC_000002.11:g.166859209C>G
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000013745.22, RCV000059409.1,

[PMID 11254444] Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.