rs121918625

Orientation

minus

Stabilized

minus

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

Make rs121918625(C;T)

Make rs121918625(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166036521

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918625
dbSNP (classic)	rs121918625
ClinGen	rs121918625
ebi	rs121918625
HLI	rs121918625
Exac	rs121918625
Gnomad	rs121918625
Varsome	rs121918625
LitVar	rs121918625
Map	rs121918625
PheGenI	rs121918625
Biobank	rs121918625
1000 genomes	rs121918625
hgdp	rs121918625
ensembl	rs121918625
geneview	rs121918625
scholar	rs121918625
google	rs121918625
pharmgkb	rs121918625
gwascentral	rs121918625
openSNP	rs121918625
23andMe	rs121918625
SNPshot	rs121918625
SNPdbe	rs121918625
MSV3d	rs121918625
GWAS Ctlg	rs121918625

Max Magnitude

0

OMIM	182389
Desc
Variant	0009
Related	also

OMIM	607208
Desc
Variant
Related	also

ClinVar
Risk	rs121918625(T;T)
Alt	rs121918625(T;T)
Reference	Rs121918625(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166893031G>A
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000032605.19,

[PMID 11359211] De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

[PMID 14672992] Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.