rs794726747

Orientation

minus

Stabilized

minus

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

Make rs794726747(A;T)

Make rs794726747(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166042397

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726747
dbSNP (classic)	rs794726747
ClinGen	rs794726747
ebi	rs794726747
HLI	rs794726747
Exac	rs794726747
Gnomad	rs794726747
Varsome	rs794726747
LitVar	rs794726747
Map	rs794726747
PheGenI	rs794726747
Biobank	rs794726747
1000 genomes	rs794726747
hgdp	rs794726747
ensembl	rs794726747
geneview	rs794726747
scholar	rs794726747
google	rs794726747
pharmgkb	rs794726747
gwascentral	rs794726747
openSNP	rs794726747
23andMe	rs794726747
SNPshot	rs794726747
SNPdbe	rs794726747
MSV3d	rs794726747
GWAS Ctlg	rs794726747

Max Magnitude

0

ClinVar
Risk	rs794726747(T;T)
Alt	rs794726747(T;T)
Reference	Rs794726747(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.166898907T>A
CLNSRC	Peking University
CLNACC	RCV000180858.1,