rs121918751

Orientation

minus

Stabilized

minus

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

Make rs121918751(G;G)

Make rs121918751(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165991841

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918751
dbSNP (classic)	rs121918751
ClinGen	rs121918751
ebi	rs121918751
HLI	rs121918751
Exac	rs121918751
Gnomad	rs121918751
Varsome	rs121918751
LitVar	rs121918751
Map	rs121918751
PheGenI	rs121918751
Biobank	rs121918751
1000 genomes	rs121918751
hgdp	rs121918751
ensembl	rs121918751
geneview	rs121918751
scholar	rs121918751
google	rs121918751
pharmgkb	rs121918751
gwascentral	rs121918751
openSNP	rs121918751
23andMe	rs121918751
SNPshot	rs121918751
SNPdbe	rs121918751
MSV3d	rs121918751
GWAS Ctlg	rs121918751

Max Magnitude

0

ClinVar
Risk	rs121918751(G;G)
Alt	rs121918751(G;G)
Reference	Rs121918751(T;T)
Significance	Probable-Pathogenic
Disease	Severe myoclonic epilepsy in infancy Seizures not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Seizures not provided
Reversed	1
HGVS	NC_000002.11:g.166848351A>C
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059542.1, RCV000193290.1, RCV000478850.1,