rs794726838

Orientation

minus

Stabilized

minus

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

Make rs794726838(C;T)

Make rs794726838(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166043742

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726838
dbSNP (classic)	rs794726838
ClinGen	rs794726838
ebi	rs794726838
HLI	rs794726838
Exac	rs794726838
Gnomad	rs794726838
Varsome	rs794726838
LitVar	rs794726838
Map	rs794726838
PheGenI	rs794726838
Biobank	rs794726838
1000 genomes	rs794726838
hgdp	rs794726838
ensembl	rs794726838
geneview	rs794726838
scholar	rs794726838
google	rs794726838
pharmgkb	rs794726838
gwascentral	rs794726838
openSNP	rs794726838
23andMe	rs794726838
SNPshot	rs794726838
SNPdbe	rs794726838
MSV3d	rs794726838
GWAS Ctlg	rs794726838

Max Magnitude

0

ClinVar
Risk	rs794726838(T;T)
Alt	rs794726838(T;T)
Reference	Rs794726838(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.166900252G>A
CLNSRC	Peking University
CLNACC	RCV000180966.1,