rs1057518667

Orientation

plus

Stabilized

plus

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

Make rs1057518667(A;G)

Make rs1057518667(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51789402

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs1057518667
dbSNP (classic)	rs1057518667
ClinGen	rs1057518667
ebi	rs1057518667
HLI	rs1057518667
Exac	rs1057518667
Gnomad	rs1057518667
Varsome	rs1057518667
LitVar	rs1057518667
Map	rs1057518667
PheGenI	rs1057518667
Biobank	rs1057518667
1000 genomes	rs1057518667
hgdp	rs1057518667
ensembl	rs1057518667
geneview	rs1057518667
scholar	rs1057518667
google	rs1057518667
pharmgkb	rs1057518667
gwascentral	rs1057518667
openSNP	rs1057518667
23andMe	rs1057518667
SNPshot	rs1057518667
SNPdbe	rs1057518667
MSV3d	rs1057518667
GWAS Ctlg	rs1057518667

Max Magnitude

0

ClinVar
Risk	rs1057518667(G;G)
Alt	rs1057518667(G;G)
Reference	Rs1057518667(A;A)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 13
Variation	info
Gene	SCN8A
CLNDBN	Early infantile epileptic encephalopathy 13
Reversed	0
HGVS	NC_000012.11:g.52183186A>G
CLNSRC
CLNACC	RCV000415327.1,