rs879255697

Orientation

plus

Stabilized

plus

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

Make rs879255697(C;C)

Make rs879255697(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

51699642

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs879255697
dbSNP (classic)	rs879255697
ClinGen	rs879255697
ebi	rs879255697
HLI	rs879255697
Exac	rs879255697
Gnomad	rs879255697
Varsome	rs879255697
LitVar	rs879255697
Map	rs879255697
PheGenI	rs879255697
Biobank	rs879255697
1000 genomes	rs879255697
hgdp	rs879255697
ensembl	rs879255697
geneview	rs879255697
scholar	rs879255697
google	rs879255697
pharmgkb	rs879255697
gwascentral	rs879255697
openSNP	rs879255697
23andMe	rs879255697
SNPshot	rs879255697
SNPdbe	rs879255697
MSV3d	rs879255697
GWAS Ctlg	rs879255697

Max Magnitude

0

ClinVar
Risk	rs879255697(C;C)
Alt	rs879255697(C;C)
Reference	Rs879255697(T;T)
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.52093426T>C
CLNSRC
CLNACC	RCV000239739.1,