rs794726797

Orientation

minus

Stabilized

minus

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

Make rs794726797(C;T)

Make rs794726797(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166048889

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726797
dbSNP (classic)	rs794726797
ClinGen	rs794726797
ebi	rs794726797
HLI	rs794726797
Exac	rs794726797
Gnomad	rs794726797
Varsome	rs794726797
LitVar	rs794726797
Map	rs794726797
PheGenI	rs794726797
Biobank	rs794726797
1000 genomes	rs794726797
hgdp	rs794726797
ensembl	rs794726797
geneview	rs794726797
scholar	rs794726797
google	rs794726797
pharmgkb	rs794726797
gwascentral	rs794726797
openSNP	rs794726797
23andMe	rs794726797
SNPshot	rs794726797
SNPdbe	rs794726797
MSV3d	rs794726797
GWAS Ctlg	rs794726797

Max Magnitude

0

ClinVar
Risk	rs794726797(A;A) rs794726797(T;T)
Alt	rs794726797(A;A) rs794726797(T;T)
Reference	Rs794726797(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.166905399G>A; NC_000002.11:g.166905399G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000180914.1, RCV000258942.1,