rs587777723

Orientation

plus

Stabilized

plus

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

Make rs587777723(A;C)

Make rs587777723(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

51789396

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs587777723
dbSNP (classic)	rs587777723
ClinGen	rs587777723
ebi	rs587777723
HLI	rs587777723
Exac	rs587777723
Gnomad	rs587777723
Varsome	rs587777723
LitVar	rs587777723
Map	rs587777723
PheGenI	rs587777723
Biobank	rs587777723
1000 genomes	rs587777723
hgdp	rs587777723
ensembl	rs587777723
geneview	rs587777723
scholar	rs587777723
google	rs587777723
pharmgkb	rs587777723
gwascentral	rs587777723
openSNP	rs587777723
23andMe	rs587777723
SNPshot	rs587777723
SNPdbe	rs587777723
MSV3d	rs587777723
GWAS Ctlg	rs587777723

Max Magnitude

0

ClinVar
Risk	rs587777723(C;C)
Alt	rs587777723(C;C)
Reference	Rs587777723(A;A)
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.52183180A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144156.5,