rs796053228

Orientation

plus

Stabilized

plus

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

Make rs796053228(C;T)

Make rs796053228(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51807100

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs796053228
dbSNP (classic)	rs796053228
ClinGen	rs796053228
ebi	rs796053228
HLI	rs796053228
Exac	rs796053228
Gnomad	rs796053228
Varsome	rs796053228
LitVar	rs796053228
Map	rs796053228
PheGenI	rs796053228
Biobank	rs796053228
1000 genomes	rs796053228
hgdp	rs796053228
ensembl	rs796053228
geneview	rs796053228
scholar	rs796053228
google	rs796053228
pharmgkb	rs796053228
gwascentral	rs796053228
openSNP	rs796053228
23andMe	rs796053228
SNPshot	rs796053228
SNPdbe	rs796053228
MSV3d	rs796053228
GWAS Ctlg	rs796053228

Max Magnitude

0

ClinVar
Risk	rs796053228(G;G) rs796053228(T;T)
Alt	rs796053228(G;G) rs796053228(T;T)
Reference	Rs796053228(C;C)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy 13 Epileptic encephalopathy
Variation	info
Gene	SCN8A
CLNDBN	not provided Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy 13 Epileptic encephalopathy
Reversed	0
HGVS	NC_000012.11:g.52200884C>G; NC_000012.11:g.52200884C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000489233.1, RCV000189289.1, RCV000229600.1, RCV000239726.1, RCV000416947.1,