rs794726767

Orientation

minus

Stabilized

minus

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

Make rs794726767(-;-)

Make rs794726767(-;TG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166047741

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726767
dbSNP (classic)	rs794726767
ClinGen	rs794726767
ebi	rs794726767
HLI	rs794726767
Exac	rs794726767
Gnomad	rs794726767
Varsome	rs794726767
LitVar	rs794726767
Map	rs794726767
PheGenI	rs794726767
Biobank	rs794726767
1000 genomes	rs794726767
hgdp	rs794726767
ensembl	rs794726767
geneview	rs794726767
scholar	rs794726767
google	rs794726767
pharmgkb	rs794726767
gwascentral	rs794726767
openSNP	rs794726767
23andMe	rs794726767
SNPshot	rs794726767
SNPdbe	rs794726767
MSV3d	rs794726767
GWAS Ctlg	rs794726767

Max Magnitude

0

ClinVar
Risk	rs794726767(-;-)
Alt	rs794726767(-;-)
Reference	Rs794726767(TG;TG)
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.166904251_166904252delCA
CLNSRC	Peking University
CLNACC	RCV000180883.1,