rs794726820

Orientation

minus

Stabilized

minus

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

Make rs794726820(-;T)

Make rs794726820(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166041327

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726820
dbSNP (classic)	rs794726820
ClinGen	rs794726820
ebi	rs794726820
HLI	rs794726820
Exac	rs794726820
Gnomad	rs794726820
Varsome	rs794726820
LitVar	rs794726820
Map	rs794726820
PheGenI	rs794726820
Biobank	rs794726820
1000 genomes	rs794726820
hgdp	rs794726820
ensembl	rs794726820
geneview	rs794726820
scholar	rs794726820
google	rs794726820
pharmgkb	rs794726820
gwascentral	rs794726820
openSNP	rs794726820
23andMe	rs794726820
SNPshot	rs794726820
SNPdbe	rs794726820
MSV3d	rs794726820
GWAS Ctlg	rs794726820

Max Magnitude

0

ClinVar
Risk	rs794726820(T;T)
Alt	rs794726820(T;T)
Reference	Rs794726820(-;-)
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.166897837_166897838insA
CLNSRC	Peking University
CLNACC	RCV000180945.1,