rs121918624

Orientation

minus

Stabilized

minus

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

Make rs121918624(C;T)

Make rs121918624(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166052882

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918624
dbSNP (classic)	rs121918624
ClinGen	rs121918624
ebi	rs121918624
HLI	rs121918624
Exac	rs121918624
Gnomad	rs121918624
Varsome	rs121918624
LitVar	rs121918624
Map	rs121918624
PheGenI	rs121918624
Biobank	rs121918624
1000 genomes	rs121918624
hgdp	rs121918624
ensembl	rs121918624
geneview	rs121918624
scholar	rs121918624
google	rs121918624
pharmgkb	rs121918624
gwascentral	rs121918624
openSNP	rs121918624
23andMe	rs121918624
SNPshot	rs121918624
SNPdbe	rs121918624
MSV3d	rs121918624
GWAS Ctlg	rs121918624

Max Magnitude

0

OMIM	182389
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918624(T;T)
Alt	rs121918624(T;T)
Reference	Rs121918624(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166909392G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000032604.26, RCV000150094.4, RCV000188841.2,