rs794726800

Orientation

minus

Stabilized

minus

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

Make rs794726800(A;A)

Make rs794726800(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165994187

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726800
dbSNP (classic)	rs794726800
ClinGen	rs794726800
ebi	rs794726800
HLI	rs794726800
Exac	rs794726800
Gnomad	rs794726800
Varsome	rs794726800
LitVar	rs794726800
Map	rs794726800
PheGenI	rs794726800
Biobank	rs794726800
1000 genomes	rs794726800
hgdp	rs794726800
ensembl	rs794726800
geneview	rs794726800
scholar	rs794726800
google	rs794726800
pharmgkb	rs794726800
gwascentral	rs794726800
openSNP	rs794726800
23andMe	rs794726800
SNPshot	rs794726800
SNPdbe	rs794726800
MSV3d	rs794726800
GWAS Ctlg	rs794726800

Max Magnitude

0

ClinVar
Risk	rs794726800(A;A)
Alt	rs794726800(A;A)
Reference	Rs794726800(G;G)
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.166850697C>T
CLNSRC	Peking University
CLNACC	RCV000180918.1,