rs794726796

Orientation

minus

Stabilized

minus

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

Make rs794726796(-;-)

Make rs794726796(-;AAGG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166058661

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726796
dbSNP (classic)	rs794726796
ClinGen	rs794726796
ebi	rs794726796
HLI	rs794726796
Exac	rs794726796
Gnomad	rs794726796
Varsome	rs794726796
LitVar	rs794726796
Map	rs794726796
PheGenI	rs794726796
Biobank	rs794726796
1000 genomes	rs794726796
hgdp	rs794726796
ensembl	rs794726796
geneview	rs794726796
scholar	rs794726796
google	rs794726796
pharmgkb	rs794726796
gwascentral	rs794726796
openSNP	rs794726796
23andMe	rs794726796
SNPshot	rs794726796
SNPdbe	rs794726796
MSV3d	rs794726796
GWAS Ctlg	rs794726796

Max Magnitude

0

ClinVar
Risk	rs794726796(-;-)
Alt	rs794726796(-;-)
Reference	Rs794726796(AAGG;AAGG)
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.166915171_166915174delCCTT
CLNSRC	Peking University
CLNACC	RCV000180913.1,