rs796053054

Orientation

minus

Stabilized

minus

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

Make rs796053054(-;T)

Make rs796053054(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166054635

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs796053054
dbSNP (classic)	rs796053054
ClinGen	rs796053054
ebi	rs796053054
HLI	rs796053054
Exac	rs796053054
Gnomad	rs796053054
Varsome	rs796053054
LitVar	rs796053054
Map	rs796053054
PheGenI	rs796053054
Biobank	rs796053054
1000 genomes	rs796053054
hgdp	rs796053054
ensembl	rs796053054
geneview	rs796053054
scholar	rs796053054
google	rs796053054
pharmgkb	rs796053054
gwascentral	rs796053054
openSNP	rs796053054
23andMe	rs796053054
SNPshot	rs796053054
SNPdbe	rs796053054
MSV3d	rs796053054
GWAS Ctlg	rs796053054

Max Magnitude

0

ClinVar
Risk	rs796053054(T;T)
Alt	rs796053054(T;T)
Reference	Rs796053054(-;-)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy
Variation	info
Gene	SCN1A
CLNDBN	not provided Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166911146dupA
CLNSRC
CLNACC	RCV000189034.1, RCV000456491.1,