rs796053217

Orientation

plus

Stabilized

plus

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

Make rs796053217(A;G)

Make rs796053217(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51790413

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs796053217
dbSNP (classic)	rs796053217
ClinGen	rs796053217
ebi	rs796053217
HLI	rs796053217
Exac	rs796053217
Gnomad	rs796053217
Varsome	rs796053217
LitVar	rs796053217
Map	rs796053217
PheGenI	rs796053217
Biobank	rs796053217
1000 genomes	rs796053217
hgdp	rs796053217
ensembl	rs796053217
geneview	rs796053217
scholar	rs796053217
google	rs796053217
pharmgkb	rs796053217
gwascentral	rs796053217
openSNP	rs796053217
23andMe	rs796053217
SNPshot	rs796053217
SNPdbe	rs796053217
MSV3d	rs796053217
GWAS Ctlg	rs796053217

Max Magnitude

0

ClinVar
Risk	rs796053217(G;G)
Alt	rs796053217(G;G)
Reference	Rs796053217(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 13
Variation	info
Gene	SCN8A
CLNDBN	Early infantile epileptic encephalopathy 13
Reversed	0
HGVS	NC_000012.11:g.52184197A>G
CLNSRC
CLNACC	RCV000239737.1,