rs794726755

Orientation

minus

Stabilized

minus

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

Make rs794726755(A;A)

Make rs794726755(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166051955

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs794726755
dbSNP (classic)	rs794726755
ClinGen	rs794726755
ebi	rs794726755
HLI	rs794726755
Exac	rs794726755
Gnomad	rs794726755
Varsome	rs794726755
LitVar	rs794726755
Map	rs794726755
PheGenI	rs794726755
Biobank	rs794726755
1000 genomes	rs794726755
hgdp	rs794726755
ensembl	rs794726755
geneview	rs794726755
scholar	rs794726755
google	rs794726755
pharmgkb	rs794726755
gwascentral	rs794726755
openSNP	rs794726755
23andMe	rs794726755
SNPshot	rs794726755
SNPdbe	rs794726755
MSV3d	rs794726755
GWAS Ctlg	rs794726755

Max Magnitude

0

ClinVar
Risk	rs794726755(A;A)
Alt	rs794726755(A;A)
Reference	Rs794726755(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.166908465G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000180867.1,