rs397514738

Orientation

plus

Stabilized

plus

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

Make rs397514738(C;G)

Make rs397514738(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51786590

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs397514738
dbSNP (classic)	rs397514738
ClinGen	rs397514738
ebi	rs397514738
HLI	rs397514738
Exac	rs397514738
Gnomad	rs397514738
Varsome	rs397514738
LitVar	rs397514738
Map	rs397514738
PheGenI	rs397514738
Biobank	rs397514738
1000 genomes	rs397514738
hgdp	rs397514738
ensembl	rs397514738
geneview	rs397514738
scholar	rs397514738
google	rs397514738
pharmgkb	rs397514738
gwascentral	rs397514738
openSNP	rs397514738
23andMe	rs397514738
SNPshot	rs397514738
SNPdbe	rs397514738
MSV3d	rs397514738
GWAS Ctlg	rs397514738

Max Magnitude

0

ClinVar
Risk	rs397514738(G;G)
Alt	rs397514738(G;G)
Reference	Rs397514738(C;C)
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.52180374C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054506.4,