rs1057519524

Orientation

plus

Stabilized

plus

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

Make rs1057519524(C;C)

Make rs1057519524(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165386837

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs1057519524
dbSNP (classic)	rs1057519524
ClinGen	rs1057519524
ebi	rs1057519524
HLI	rs1057519524
Exac	rs1057519524
Gnomad	rs1057519524
Varsome	rs1057519524
LitVar	rs1057519524
Map	rs1057519524
PheGenI	rs1057519524
Biobank	rs1057519524
1000 genomes	rs1057519524
hgdp	rs1057519524
ensembl	rs1057519524
geneview	rs1057519524
scholar	rs1057519524
google	rs1057519524
pharmgkb	rs1057519524
gwascentral	rs1057519524
openSNP	rs1057519524
23andMe	rs1057519524
SNPshot	rs1057519524
SNPdbe	rs1057519524
MSV3d	rs1057519524
GWAS Ctlg	rs1057519524

Max Magnitude

0

ClinVar
Risk	rs1057519524(C;C)
Alt	rs1057519524(C;C)
Reference	Rs1057519524(T;T)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166243347T>C
CLNSRC
CLNACC	RCV000417035.1,