rs794726778

Orientation

minus

Stabilized

minus

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

Make rs794726778(C;T)

Make rs794726778(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166043878

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726778
dbSNP (classic)	rs794726778
ClinGen	rs794726778
ebi	rs794726778
HLI	rs794726778
Exac	rs794726778
Gnomad	rs794726778
Varsome	rs794726778
LitVar	rs794726778
Map	rs794726778
PheGenI	rs794726778
Biobank	rs794726778
1000 genomes	rs794726778
hgdp	rs794726778
ensembl	rs794726778
geneview	rs794726778
scholar	rs794726778
google	rs794726778
pharmgkb	rs794726778
gwascentral	rs794726778
openSNP	rs794726778
23andMe	rs794726778
SNPshot	rs794726778
SNPdbe	rs794726778
MSV3d	rs794726778
GWAS Ctlg	rs794726778

Max Magnitude

0

ClinVar
Risk	rs794726778(T;T)
Alt	rs794726778(T;T)
Reference	Rs794726778(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.166900388G>A
CLNSRC	Peking University
CLNACC	RCV000180894.1,