rs1057519526

Orientation

plus

Stabilized

plus

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

Make rs1057519526(C;T)

Make rs1057519526(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165344679

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs1057519526
dbSNP (classic)	rs1057519526
ClinGen	rs1057519526
ebi	rs1057519526
HLI	rs1057519526
Exac	rs1057519526
Gnomad	rs1057519526
Varsome	rs1057519526
LitVar	rs1057519526
Map	rs1057519526
PheGenI	rs1057519526
Biobank	rs1057519526
1000 genomes	rs1057519526
hgdp	rs1057519526
ensembl	rs1057519526
geneview	rs1057519526
scholar	rs1057519526
google	rs1057519526
pharmgkb	rs1057519526
gwascentral	rs1057519526
openSNP	rs1057519526
23andMe	rs1057519526
SNPshot	rs1057519526
SNPdbe	rs1057519526
MSV3d	rs1057519526
GWAS Ctlg	rs1057519526

Max Magnitude

0

ClinVar
Risk	rs1057519526(T;T)
Alt	rs1057519526(T;T)
Reference	Rs1057519526(C;C)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166201189C>T
CLNSRC
CLNACC	RCV000417026.1,