rs761336234

Orientation

plus

Stabilized

plus

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

Make rs761336234(C;T)

Make rs761336234(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

51706668

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs761336234
dbSNP (classic)	rs761336234
ClinGen	rs761336234
ebi	rs761336234
HLI	rs761336234
Exac	rs761336234
Gnomad	rs761336234
Varsome	rs761336234
LitVar	rs761336234
Map	rs761336234
PheGenI	rs761336234
Biobank	rs761336234
1000 genomes	rs761336234
hgdp	rs761336234
ensembl	rs761336234
geneview	rs761336234
scholar	rs761336234
google	rs761336234
pharmgkb	rs761336234
gwascentral	rs761336234
openSNP	rs761336234
23andMe	rs761336234
SNPshot	rs761336234
SNPdbe	rs761336234
MSV3d	rs761336234
GWAS Ctlg	rs761336234

Max Magnitude

0

ClinVar
Risk	rs761336234(T;T)
Alt	rs761336234(T;T)
Reference	Rs761336234(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.52100452C>T
CLNSRC
CLNACC	RCV000239743.1,