rs796053216

Orientation

plus

Stabilized

plus

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

Make rs796053216(A;A)

Make rs796053216(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51790401

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs796053216
dbSNP (classic)	rs796053216
ClinGen	rs796053216
ebi	rs796053216
HLI	rs796053216
Exac	rs796053216
Gnomad	rs796053216
Varsome	rs796053216
LitVar	rs796053216
Map	rs796053216
PheGenI	rs796053216
Biobank	rs796053216
1000 genomes	rs796053216
hgdp	rs796053216
ensembl	rs796053216
geneview	rs796053216
scholar	rs796053216
google	rs796053216
pharmgkb	rs796053216
gwascentral	rs796053216
openSNP	rs796053216
23andMe	rs796053216
SNPshot	rs796053216
SNPdbe	rs796053216
MSV3d	rs796053216
GWAS Ctlg	rs796053216

Max Magnitude

0

ClinVar
Risk	rs796053216(A;A)
Alt	rs796053216(A;A)
Reference	Rs796053216(G;G)
Significance	Pathogenic
Disease	not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Variation	info
Gene	SCN8A
CLNDBN	not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000012.11:g.52184185G>A
CLNSRC
CLNACC	RCV000189277.2, RCV000416962.1, RCV000462091.1,