rs1057519523

Orientation

plus

Stabilized

plus

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

Make rs1057519523(A;G)

Make rs1057519523(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165373342

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs1057519523
dbSNP (classic)	rs1057519523
ClinGen	rs1057519523
ebi	rs1057519523
HLI	rs1057519523
Exac	rs1057519523
Gnomad	rs1057519523
Varsome	rs1057519523
LitVar	rs1057519523
Map	rs1057519523
PheGenI	rs1057519523
Biobank	rs1057519523
1000 genomes	rs1057519523
hgdp	rs1057519523
ensembl	rs1057519523
geneview	rs1057519523
scholar	rs1057519523
google	rs1057519523
pharmgkb	rs1057519523
gwascentral	rs1057519523
openSNP	rs1057519523
23andMe	rs1057519523
SNPshot	rs1057519523
SNPdbe	rs1057519523
MSV3d	rs1057519523
GWAS Ctlg	rs1057519523

Max Magnitude

0

ClinVar
Risk	rs1057519523(G;G)
Alt	rs1057519523(G;G)
Reference	Rs1057519523(A;A)
Significance	Pathogenic
Disease	Malignant migrating partial seizures of infancy
Variation	info
Gene	SCN2A
CLNDBN	Malignant migrating partial seizures of infancy
Reversed	0
HGVS	NC_000002.11:g.166229852A>G
CLNSRC
CLNACC	RCV000416998.1,