rs121918757

Orientation

minus

Stabilized

minus

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

Make rs121918757(C;C)

Make rs121918757(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165991853

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918757
dbSNP (classic)	rs121918757
ClinGen	rs121918757
ebi	rs121918757
HLI	rs121918757
Exac	rs121918757
Gnomad	rs121918757
Varsome	rs121918757
LitVar	rs121918757
Map	rs121918757
PheGenI	rs121918757
Biobank	rs121918757
1000 genomes	rs121918757
hgdp	rs121918757
ensembl	rs121918757
geneview	rs121918757
scholar	rs121918757
google	rs121918757
pharmgkb	rs121918757
gwascentral	rs121918757
openSNP	rs121918757
23andMe	rs121918757
SNPshot	rs121918757
SNPdbe	rs121918757
MSV3d	rs121918757
GWAS Ctlg	rs121918757

Max Magnitude

0

ClinVar
Risk	rs121918757(C;C)
Alt	rs121918757(C;C)
Reference	Rs121918757(T;T)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166848363A>G
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059541.1, RCV000435635.1,