rs794726802

Orientation

minus

Stabilized

minus

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

Make rs794726802(A;T)

Make rs794726802(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165992167

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726802
dbSNP (classic)	rs794726802
ClinGen	rs794726802
ebi	rs794726802
HLI	rs794726802
Exac	rs794726802
Gnomad	rs794726802
Varsome	rs794726802
LitVar	rs794726802
Map	rs794726802
PheGenI	rs794726802
Biobank	rs794726802
1000 genomes	rs794726802
hgdp	rs794726802
ensembl	rs794726802
geneview	rs794726802
scholar	rs794726802
google	rs794726802
pharmgkb	rs794726802
gwascentral	rs794726802
openSNP	rs794726802
23andMe	rs794726802
SNPshot	rs794726802
SNPdbe	rs794726802
MSV3d	rs794726802
GWAS Ctlg	rs794726802

Max Magnitude

0

ClinVar
Risk	rs794726802(T;T)
Alt	rs794726802(T;T)
Reference	Rs794726802(A;A)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848677T>A
CLNSRC	Peking University
CLNACC	RCV000180920.1,