rs121918631

Orientation

minus

Stabilized

minus

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

Make rs121918631(C;C)

Make rs121918631(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166056450

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918631
dbSNP (classic)	rs121918631
ClinGen	rs121918631
ebi	rs121918631
HLI	rs121918631
Exac	rs121918631
Gnomad	rs121918631
Varsome	rs121918631
LitVar	rs121918631
Map	rs121918631
PheGenI	rs121918631
Biobank	rs121918631
1000 genomes	rs121918631
hgdp	rs121918631
ensembl	rs121918631
geneview	rs121918631
scholar	rs121918631
google	rs121918631
pharmgkb	rs121918631
gwascentral	rs121918631
openSNP	rs121918631
23andMe	rs121918631
SNPshot	rs121918631
SNPdbe	rs121918631
MSV3d	rs121918631
GWAS Ctlg	rs121918631

Max Magnitude

0

OMIM	182389
Desc
Variant	0015
Related	also

OMIM	604403
Desc
Variant
Related	also

ClinVar
Risk	rs121918631(A;A) rs121918631(C;C)
Alt	rs121918631(A;A) rs121918631(C;C)
Reference	Rs121918631(T;T)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166912960A>G; NC_000002.11:g.166912960A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000013758.24, RCV000255880.1, RCV000188834.1,

[PMID 16326807] Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.