rs794726837

Orientation

minus

Stabilized

minus

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

Make rs794726837(G;G)

Make rs794726837(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166051705

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726837
dbSNP (classic)	rs794726837
ClinGen	rs794726837
ebi	rs794726837
HLI	rs794726837
Exac	rs794726837
Gnomad	rs794726837
Varsome	rs794726837
LitVar	rs794726837
Map	rs794726837
PheGenI	rs794726837
Biobank	rs794726837
1000 genomes	rs794726837
hgdp	rs794726837
ensembl	rs794726837
geneview	rs794726837
scholar	rs794726837
google	rs794726837
pharmgkb	rs794726837
gwascentral	rs794726837
openSNP	rs794726837
23andMe	rs794726837
SNPshot	rs794726837
SNPdbe	rs794726837
MSV3d	rs794726837
GWAS Ctlg	rs794726837

Max Magnitude

0

ClinVar
Risk	rs794726837(G;G)
Alt	rs794726837(G;G)
Reference	Rs794726837(T;T)
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.166908215A>C
CLNSRC	Peking University
CLNACC	RCV000180965.1,