rs587777721

Orientation

plus

Stabilized

plus

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

Make rs587777721(A;A)

Make rs587777721(A;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

51806336

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs587777721
dbSNP (classic)	rs587777721
ClinGen	rs587777721
ebi	rs587777721
HLI	rs587777721
Exac	rs587777721
Gnomad	rs587777721
Varsome	rs587777721
LitVar	rs587777721
Map	rs587777721
PheGenI	rs587777721
Biobank	rs587777721
1000 genomes	rs587777721
hgdp	rs587777721
ensembl	rs587777721
geneview	rs587777721
scholar	rs587777721
google	rs587777721
pharmgkb	rs587777721
gwascentral	rs587777721
openSNP	rs587777721
23andMe	rs587777721
SNPshot	rs587777721
SNPdbe	rs587777721
MSV3d	rs587777721
GWAS Ctlg	rs587777721

Max Magnitude

0

ClinVar
Risk	rs587777721(A;A)
Alt	rs587777721(A;A)
Reference	Rs587777721(G;G)
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.52200120G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144154.5,