rs794726751

Orientation

minus

Stabilized

minus

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

Make rs794726751(-;-)

Make rs794726751(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166051932

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726751
dbSNP (classic)	rs794726751
ClinGen	rs794726751
ebi	rs794726751
HLI	rs794726751
Exac	rs794726751
Gnomad	rs794726751
Varsome	rs794726751
LitVar	rs794726751
Map	rs794726751
PheGenI	rs794726751
Biobank	rs794726751
1000 genomes	rs794726751
hgdp	rs794726751
ensembl	rs794726751
geneview	rs794726751
scholar	rs794726751
google	rs794726751
pharmgkb	rs794726751
gwascentral	rs794726751
openSNP	rs794726751
23andMe	rs794726751
SNPshot	rs794726751
SNPdbe	rs794726751
MSV3d	rs794726751
GWAS Ctlg	rs794726751

Max Magnitude

0

ClinVar
Risk	rs794726751(-;-)
Alt	rs794726751(-;-)
Reference	Rs794726751(A;A)
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.166908442delT
CLNSRC	Peking University
CLNACC	RCV000180862.1,