rs879255693

Orientation

plus

Stabilized

plus

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

Make rs879255693(C;C)

Make rs879255693(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

51688772

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs879255693
dbSNP (classic)	rs879255693
ClinGen	rs879255693
ebi	rs879255693
HLI	rs879255693
Exac	rs879255693
Gnomad	rs879255693
Varsome	rs879255693
LitVar	rs879255693
Map	rs879255693
PheGenI	rs879255693
Biobank	rs879255693
1000 genomes	rs879255693
hgdp	rs879255693
ensembl	rs879255693
geneview	rs879255693
scholar	rs879255693
google	rs879255693
pharmgkb	rs879255693
gwascentral	rs879255693
openSNP	rs879255693
23andMe	rs879255693
SNPshot	rs879255693
SNPdbe	rs879255693
MSV3d	rs879255693
GWAS Ctlg	rs879255693

Max Magnitude

0

ClinVar
Risk	rs879255693(C;C)
Alt	rs879255693(C;C)
Reference	Rs879255693(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.52082556T>C
CLNSRC
CLNACC	RCV000239750.1,