rs794726753

Orientation

minus

Stabilized

minus

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

Make rs794726753(A;A)

Make rs794726753(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166047651

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726753
dbSNP (classic)	rs794726753
ClinGen	rs794726753
ebi	rs794726753
HLI	rs794726753
Exac	rs794726753
Gnomad	rs794726753
Varsome	rs794726753
LitVar	rs794726753
Map	rs794726753
PheGenI	rs794726753
Biobank	rs794726753
1000 genomes	rs794726753
hgdp	rs794726753
ensembl	rs794726753
geneview	rs794726753
scholar	rs794726753
google	rs794726753
pharmgkb	rs794726753
gwascentral	rs794726753
openSNP	rs794726753
23andMe	rs794726753
SNPshot	rs794726753
SNPdbe	rs794726753
MSV3d	rs794726753
GWAS Ctlg	rs794726753

Max Magnitude

0

ClinVar
Risk	rs794726753(A;A)
Alt	rs794726753(A;A)
Reference	Rs794726753(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.166904161G>T
CLNSRC	Peking University
CLNACC	RCV000180865.1,