rs794726704

Orientation

minus

Stabilized

minus

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

Make rs794726704(-;-)

Make rs794726704(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166044045

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726704
dbSNP (classic)	rs794726704
ClinGen	rs794726704
ebi	rs794726704
HLI	rs794726704
Exac	rs794726704
Gnomad	rs794726704
Varsome	rs794726704
LitVar	rs794726704
Map	rs794726704
PheGenI	rs794726704
Biobank	rs794726704
1000 genomes	rs794726704
hgdp	rs794726704
ensembl	rs794726704
geneview	rs794726704
scholar	rs794726704
google	rs794726704
pharmgkb	rs794726704
gwascentral	rs794726704
openSNP	rs794726704
23andMe	rs794726704
SNPshot	rs794726704
SNPdbe	rs794726704
MSV3d	rs794726704
GWAS Ctlg	rs794726704

Max Magnitude

0

ClinVar
Risk	rs794726704(-;-)
Alt	rs794726704(-;-)
Reference	Rs794726704(T;T)
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.166900555delA
CLNSRC	Peking University
CLNACC	RCV000180807.1,