rs794726791

Orientation

minus

Stabilized

minus

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

Make rs794726791(-;-)

Make rs794726791(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

166073437

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726791
dbSNP (classic)	rs794726791
ClinGen	rs794726791
ebi	rs794726791
HLI	rs794726791
Exac	rs794726791
Gnomad	rs794726791
Varsome	rs794726791
LitVar	rs794726791
Map	rs794726791
PheGenI	rs794726791
Biobank	rs794726791
1000 genomes	rs794726791
hgdp	rs794726791
ensembl	rs794726791
geneview	rs794726791
scholar	rs794726791
google	rs794726791
pharmgkb	rs794726791
gwascentral	rs794726791
openSNP	rs794726791
23andMe	rs794726791
SNPshot	rs794726791
SNPdbe	rs794726791
MSV3d	rs794726791
GWAS Ctlg	rs794726791

Max Magnitude

0

ClinVar
Risk	rs794726791(-;-)
Alt	rs794726791(-;-)
Reference	Rs794726791(C;C)
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.166929947delG
CLNSRC	Peking University
CLNACC	RCV000180907.1,