rs796053229

Orientation

plus

Stabilized

plus

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

Make rs796053229(G;T)

Make rs796053229(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51807101

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs796053229
dbSNP (classic)	rs796053229
ClinGen	rs796053229
ebi	rs796053229
HLI	rs796053229
Exac	rs796053229
Gnomad	rs796053229
Varsome	rs796053229
LitVar	rs796053229
Map	rs796053229
PheGenI	rs796053229
Biobank	rs796053229
1000 genomes	rs796053229
hgdp	rs796053229
ensembl	rs796053229
geneview	rs796053229
scholar	rs796053229
google	rs796053229
pharmgkb	rs796053229
gwascentral	rs796053229
openSNP	rs796053229
23andMe	rs796053229
SNPshot	rs796053229
SNPdbe	rs796053229
MSV3d	rs796053229
GWAS Ctlg	rs796053229

Max Magnitude

0

ClinVar
Risk	rs796053229(A;A) rs796053229(T;T)
Alt	rs796053229(A;A) rs796053229(T;T)
Reference	Rs796053229(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 13 not provided
Variation	info
Gene	SCN8A
CLNDBN	Early infantile epileptic encephalopathy 13 not provided
Reversed	0
HGVS	NC_000012.11:g.52200885G>A; NC_000012.11:g.52200885G>T
CLNSRC
CLNACC	RCV000239745.1, RCV000189290.1,