rs794726717

Orientation

minus

Stabilized

minus

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

Make rs794726717(-;C)

Make rs794726717(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

166045045

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726717
dbSNP (classic)	rs794726717
ClinGen	rs794726717
ebi	rs794726717
HLI	rs794726717
Exac	rs794726717
Gnomad	rs794726717
Varsome	rs794726717
LitVar	rs794726717
Map	rs794726717
PheGenI	rs794726717
Biobank	rs794726717
1000 genomes	rs794726717
hgdp	rs794726717
ensembl	rs794726717
geneview	rs794726717
scholar	rs794726717
google	rs794726717
pharmgkb	rs794726717
gwascentral	rs794726717
openSNP	rs794726717
23andMe	rs794726717
SNPshot	rs794726717
SNPdbe	rs794726717
MSV3d	rs794726717
GWAS Ctlg	rs794726717

Max Magnitude

0

ClinVar
Risk	rs794726717(C;C)
Alt	rs794726717(C;C)
Reference	Rs794726717(-;-)
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.166901556dupG
CLNSRC	Peking University
CLNACC	RCV000180821.1,