rs794726812

Orientation

minus

Stabilized

minus

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

Make rs794726812(-;GTATA)

Make rs794726812(GTATA;GTATA)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166051857

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726812
dbSNP (classic)	rs794726812
ClinGen	rs794726812
ebi	rs794726812
HLI	rs794726812
Exac	rs794726812
Gnomad	rs794726812
Varsome	rs794726812
LitVar	rs794726812
Map	rs794726812
PheGenI	rs794726812
Biobank	rs794726812
1000 genomes	rs794726812
hgdp	rs794726812
ensembl	rs794726812
geneview	rs794726812
scholar	rs794726812
google	rs794726812
pharmgkb	rs794726812
gwascentral	rs794726812
openSNP	rs794726812
23andMe	rs794726812
SNPshot	rs794726812
SNPdbe	rs794726812
MSV3d	rs794726812
GWAS Ctlg	rs794726812

Max Magnitude

0

ClinVar
Risk	rs794726812(GTATA;GTATA)
Alt	rs794726812(GTATA;GTATA)
Reference	Rs794726812(-;-)
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.166908367_166908368insTATAC
CLNSRC	Peking University
CLNACC	RCV000180934.1,