rs1057519540

Orientation

plus

Stabilized

plus

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

Make rs1057519540(A;G)

Make rs1057519540(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51768895

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs1057519540
dbSNP (classic)	rs1057519540
ClinGen	rs1057519540
ebi	rs1057519540
HLI	rs1057519540
Exac	rs1057519540
Gnomad	rs1057519540
Varsome	rs1057519540
LitVar	rs1057519540
Map	rs1057519540
PheGenI	rs1057519540
Biobank	rs1057519540
1000 genomes	rs1057519540
hgdp	rs1057519540
ensembl	rs1057519540
geneview	rs1057519540
scholar	rs1057519540
google	rs1057519540
pharmgkb	rs1057519540
gwascentral	rs1057519540
openSNP	rs1057519540
23andMe	rs1057519540
SNPshot	rs1057519540
SNPdbe	rs1057519540
MSV3d	rs1057519540
GWAS Ctlg	rs1057519540

Max Magnitude

0

ClinVar
Risk	rs1057519540(G;G)
Alt	rs1057519540(G;G)
Reference	Rs1057519540(A;A)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN8A
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000012.11:g.52162679A>G
CLNSRC
CLNACC	RCV000417010.1,