rs121918733

Orientation

minus

Stabilized

minus

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

Make rs121918733(C;C)

Make rs121918733(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166058684

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918733
dbSNP (classic)	rs121918733
ClinGen	rs121918733
ebi	rs121918733
HLI	rs121918733
Exac	rs121918733
Gnomad	rs121918733
Varsome	rs121918733
LitVar	rs121918733
Map	rs121918733
PheGenI	rs121918733
Biobank	rs121918733
1000 genomes	rs121918733
hgdp	rs121918733
ensembl	rs121918733
geneview	rs121918733
scholar	rs121918733
google	rs121918733
pharmgkb	rs121918733
gwascentral	rs121918733
openSNP	rs121918733
23andMe	rs121918733
SNPshot	rs121918733
SNPdbe	rs121918733
MSV3d	rs121918733
GWAS Ctlg	rs121918733

Max Magnitude

0

ClinVar
Risk	rs121918733(C;C)
Alt	rs121918733(C;C)
Reference	Rs121918733(T;T)
Significance	Other
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166915194A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059473.3, RCV000332135.1,