rs587780454

Orientation

plus

Stabilized

plus

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

Make rs587780454(C;C)

Make rs587780454(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

51794620

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs587780454
dbSNP (classic)	rs587780454
ClinGen	rs587780454
ebi	rs587780454
HLI	rs587780454
Exac	rs587780454
Gnomad	rs587780454
Varsome	rs587780454
LitVar	rs587780454
Map	rs587780454
PheGenI	rs587780454
Biobank	rs587780454
1000 genomes	rs587780454
hgdp	rs587780454
ensembl	rs587780454
geneview	rs587780454
scholar	rs587780454
google	rs587780454
pharmgkb	rs587780454
gwascentral	rs587780454
openSNP	rs587780454
23andMe	rs587780454
SNPshot	rs587780454
SNPdbe	rs587780454
MSV3d	rs587780454
GWAS Ctlg	rs587780454

Max Magnitude

0

ClinVar
Risk	rs587780454(C;C)
Alt	rs587780454(C;C)
Reference	Rs587780454(G;G)
Significance	Other
Disease	Early infantile epileptic encephalopathy 13
Variation	info
Gene	SCN8A
CLNDBN	Early infantile epileptic encephalopathy 13
Reversed	0
HGVS	NC_000012.11:g.52188404G>C
CLNSRC
CLNACC	RCV000118285.2,