rs794726742

Orientation

minus

Stabilized

minus

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

Make rs794726742(G;T)

Make rs794726742(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166041433

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726742
dbSNP (classic)	rs794726742
ClinGen	rs794726742
ebi	rs794726742
HLI	rs794726742
Exac	rs794726742
Gnomad	rs794726742
Varsome	rs794726742
LitVar	rs794726742
Map	rs794726742
PheGenI	rs794726742
Biobank	rs794726742
1000 genomes	rs794726742
hgdp	rs794726742
ensembl	rs794726742
geneview	rs794726742
scholar	rs794726742
google	rs794726742
pharmgkb	rs794726742
gwascentral	rs794726742
openSNP	rs794726742
23andMe	rs794726742
SNPshot	rs794726742
SNPdbe	rs794726742
MSV3d	rs794726742
GWAS Ctlg	rs794726742

Max Magnitude

0

ClinVar
Risk	rs794726742(A;A) rs794726742(T;T)
Alt	rs794726742(A;A) rs794726742(T;T)
Reference	Rs794726742(G;G)
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.166897943C>A; NC_000002.11:g.166897943C>T
CLNSRC	Peking University
CLNACC	RCV000180852.1, RCV000180923.1,