rs758253791

Orientation

plus

Stabilized

plus

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

Make rs758253791(C;T)

Make rs758253791(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

51745907

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs758253791
dbSNP (classic)	rs758253791
ClinGen	rs758253791
ebi	rs758253791
HLI	rs758253791
Exac	rs758253791
Gnomad	rs758253791
Varsome	rs758253791
LitVar	rs758253791
Map	rs758253791
PheGenI	rs758253791
Biobank	rs758253791
1000 genomes	rs758253791
hgdp	rs758253791
ensembl	rs758253791
geneview	rs758253791
scholar	rs758253791
google	rs758253791
pharmgkb	rs758253791
gwascentral	rs758253791
openSNP	rs758253791
23andMe	rs758253791
SNPshot	rs758253791
SNPdbe	rs758253791
MSV3d	rs758253791
GWAS Ctlg	rs758253791

Max Magnitude

0

ClinVar
Risk	rs758253791(T;T)
Alt	rs758253791(T;T)
Reference	Rs758253791(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.52139691C>T
CLNSRC
CLNACC	RCV000239754.1,