rs121918748

Orientation

minus

Stabilized

minus

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

Make rs121918748(C;C)

Make rs121918748(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165991783

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918748
dbSNP (classic)	rs121918748
ClinGen	rs121918748
ebi	rs121918748
HLI	rs121918748
Exac	rs121918748
Gnomad	rs121918748
Varsome	rs121918748
LitVar	rs121918748
Map	rs121918748
PheGenI	rs121918748
Biobank	rs121918748
1000 genomes	rs121918748
hgdp	rs121918748
ensembl	rs121918748
geneview	rs121918748
scholar	rs121918748
google	rs121918748
pharmgkb	rs121918748
gwascentral	rs121918748
openSNP	rs121918748
23andMe	rs121918748
SNPshot	rs121918748
SNPdbe	rs121918748
MSV3d	rs121918748
GWAS Ctlg	rs121918748

Max Magnitude

0

ClinVar
Risk	rs121918748(C;C) rs121918748(G;G)
Alt	rs121918748(C;C) rs121918748(G;G)
Reference	Rs121918748(T;T)
Significance	Pathogenic
Disease	not provided Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	not provided Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848293A>C; NC_000002.11:g.166848293A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000478355.1, RCV000059543.1,