rs794726766

Orientation

minus

Stabilized

minus

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

Make rs794726766(C;T)

Make rs794726766(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166041343

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726766
dbSNP (classic)	rs794726766
ClinGen	rs794726766
ebi	rs794726766
HLI	rs794726766
Exac	rs794726766
Gnomad	rs794726766
Varsome	rs794726766
LitVar	rs794726766
Map	rs794726766
PheGenI	rs794726766
Biobank	rs794726766
1000 genomes	rs794726766
hgdp	rs794726766
ensembl	rs794726766
geneview	rs794726766
scholar	rs794726766
google	rs794726766
pharmgkb	rs794726766
gwascentral	rs794726766
openSNP	rs794726766
23andMe	rs794726766
SNPshot	rs794726766
SNPdbe	rs794726766
MSV3d	rs794726766
GWAS Ctlg	rs794726766

Max Magnitude

0

ClinVar
Risk	rs794726766(T;T)
Alt	rs794726766(T;T)
Reference	Rs794726766(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.166897853G>A
CLNSRC	Peking University
CLNACC	RCV000180882.1,