rs796053004

Orientation

minus

Stabilized

minus

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

Make rs796053004(C;T)

Make rs796053004(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166009736

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs796053004
dbSNP (classic)	rs796053004
ClinGen	rs796053004
ebi	rs796053004
HLI	rs796053004
Exac	rs796053004
Gnomad	rs796053004
Varsome	rs796053004
LitVar	rs796053004
Map	rs796053004
PheGenI	rs796053004
Biobank	rs796053004
1000 genomes	rs796053004
hgdp	rs796053004
ensembl	rs796053004
geneview	rs796053004
scholar	rs796053004
google	rs796053004
pharmgkb	rs796053004
gwascentral	rs796053004
openSNP	rs796053004
23andMe	rs796053004
SNPshot	rs796053004
SNPdbe	rs796053004
MSV3d	rs796053004
GWAS Ctlg	rs796053004

Max Magnitude

0

ClinVar
Risk	rs796053004(T;T)
Alt	rs796053004(T;T)
Reference	Rs796053004(C;C)
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.166866246G>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000188938.1, RCV000201135.1,