rs794726777

Orientation

minus

Stabilized

minus

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

Make rs794726777(-;A)

Make rs794726777(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166046964

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726777
dbSNP (classic)	rs794726777
ClinGen	rs794726777
ebi	rs794726777
HLI	rs794726777
Exac	rs794726777
Gnomad	rs794726777
Varsome	rs794726777
LitVar	rs794726777
Map	rs794726777
PheGenI	rs794726777
Biobank	rs794726777
1000 genomes	rs794726777
hgdp	rs794726777
ensembl	rs794726777
geneview	rs794726777
scholar	rs794726777
google	rs794726777
pharmgkb	rs794726777
gwascentral	rs794726777
openSNP	rs794726777
23andMe	rs794726777
SNPshot	rs794726777
SNPdbe	rs794726777
MSV3d	rs794726777
GWAS Ctlg	rs794726777

Max Magnitude

0

ClinVar
Risk	rs794726777(A;A)
Alt	rs794726777(A;A)
Reference	Rs794726777(-;-)
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.166903474_166903475insT
CLNSRC	Peking University
CLNACC	RCV000180893.1,