rs121918736

Orientation

minus

Stabilized

minus

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

Make rs121918736(C;T)

Make rs121918736(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166037907

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918736
dbSNP (classic)	rs121918736
ClinGen	rs121918736
ebi	rs121918736
HLI	rs121918736
Exac	rs121918736
Gnomad	rs121918736
Varsome	rs121918736
LitVar	rs121918736
Map	rs121918736
PheGenI	rs121918736
Biobank	rs121918736
1000 genomes	rs121918736
hgdp	rs121918736
ensembl	rs121918736
geneview	rs121918736
scholar	rs121918736
google	rs121918736
pharmgkb	rs121918736
gwascentral	rs121918736
openSNP	rs121918736
23andMe	rs121918736
SNPshot	rs121918736
SNPdbe	rs121918736
MSV3d	rs121918736
GWAS Ctlg	rs121918736

Max Magnitude

0

ClinVar
Risk	rs121918736(T;T)
Alt	rs121918736(T;T)
Reference	Rs121918736(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166894417G>A
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059477.2,