rs121917953

Orientation

minus

Stabilized

minus

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

Make rs121917953(A;T)

Make rs121917953(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166054677

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917953
dbSNP (classic)	rs121917953
ClinGen	rs121917953
ebi	rs121917953
HLI	rs121917953
Exac	rs121917953
Gnomad	rs121917953
Varsome	rs121917953
LitVar	rs121917953
Map	rs121917953
PheGenI	rs121917953
Biobank	rs121917953
1000 genomes	rs121917953
hgdp	rs121917953
ensembl	rs121917953
geneview	rs121917953
scholar	rs121917953
google	rs121917953
pharmgkb	rs121917953
gwascentral	rs121917953
openSNP	rs121917953
23andMe	rs121917953
SNPshot	rs121917953
SNPdbe	rs121917953
MSV3d	rs121917953
GWAS Ctlg	rs121917953

Max Magnitude

0

OMIM	182389
Desc
Variant	0003
Related	also

OMIM	604233
Desc
Variant
Related	also

ClinVar
Risk	rs121917953(T;T)
Alt	rs121917953(T;T)
Reference	Rs121917953(A;A)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus
Variation	info
Gene	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.166911187T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000013744.23, RCV000059448.1,

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