rs121917930

Orientation

minus

Stabilized

minus

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

Make rs121917930(C;C)

Make rs121917930(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166013839

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917930
dbSNP (classic)	rs121917930
ClinGen	rs121917930
ebi	rs121917930
HLI	rs121917930
Exac	rs121917930
Gnomad	rs121917930
Varsome	rs121917930
LitVar	rs121917930
Map	rs121917930
PheGenI	rs121917930
Biobank	rs121917930
1000 genomes	rs121917930
hgdp	rs121917930
ensembl	rs121917930
geneview	rs121917930
scholar	rs121917930
google	rs121917930
pharmgkb	rs121917930
gwascentral	rs121917930
openSNP	rs121917930
23andMe	rs121917930
SNPshot	rs121917930
SNPdbe	rs121917930
MSV3d	rs121917930
GWAS Ctlg	rs121917930

Max Magnitude

0

OMIM	182389
Desc
Variant	0006
Related	also

OMIM	604233
Desc
Variant
Related	also

ClinVar
Risk	rs121917930(C;C)
Alt	rs121917930(C;C)
Reference	Rs121917930(T;T)
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.166870349A>G
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000013747.18, RCV000059402.1,

[PMID 17561957] Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.