rs1057519528

Orientation

plus

Stabilized

plus

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

Make rs1057519528(A;A)

Make rs1057519528(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165310376

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs1057519528
dbSNP (classic)	rs1057519528
ClinGen	rs1057519528
ebi	rs1057519528
HLI	rs1057519528
Exac	rs1057519528
Gnomad	rs1057519528
Varsome	rs1057519528
LitVar	rs1057519528
Map	rs1057519528
PheGenI	rs1057519528
Biobank	rs1057519528
1000 genomes	rs1057519528
hgdp	rs1057519528
ensembl	rs1057519528
geneview	rs1057519528
scholar	rs1057519528
google	rs1057519528
pharmgkb	rs1057519528
gwascentral	rs1057519528
openSNP	rs1057519528
23andMe	rs1057519528
SNPshot	rs1057519528
SNPdbe	rs1057519528
MSV3d	rs1057519528
GWAS Ctlg	rs1057519528

Max Magnitude

0

ClinVar
Risk	rs1057519528(A;A)
Alt	rs1057519528(A;A)
Reference	Rs1057519528(G;G)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166166886G>A
CLNSRC
CLNACC	RCV000416970.1,