rs587777722

Orientation

plus

Stabilized

plus

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

Make rs587777722(A;A)

Make rs587777722(A;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

51789397

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs587777722
dbSNP (classic)	rs587777722
ClinGen	rs587777722
ebi	rs587777722
HLI	rs587777722
Exac	rs587777722
Gnomad	rs587777722
Varsome	rs587777722
LitVar	rs587777722
Map	rs587777722
PheGenI	rs587777722
Biobank	rs587777722
1000 genomes	rs587777722
hgdp	rs587777722
ensembl	rs587777722
geneview	rs587777722
scholar	rs587777722
google	rs587777722
pharmgkb	rs587777722
gwascentral	rs587777722
openSNP	rs587777722
23andMe	rs587777722
SNPshot	rs587777722
SNPdbe	rs587777722
MSV3d	rs587777722
GWAS Ctlg	rs587777722

Max Magnitude

0

ClinVar
Risk	rs587777722(A;A)
Alt	rs587777722(A;A)
Reference	Rs587777722(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.52183181C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144155.5,