rs1057519527

Orientation

plus

Stabilized

plus

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

Make rs1057519527(A;A)

Make rs1057519527(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165374743

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs1057519527
dbSNP (classic)	rs1057519527
ClinGen	rs1057519527
ebi	rs1057519527
HLI	rs1057519527
Exac	rs1057519527
Gnomad	rs1057519527
Varsome	rs1057519527
LitVar	rs1057519527
Map	rs1057519527
PheGenI	rs1057519527
Biobank	rs1057519527
1000 genomes	rs1057519527
hgdp	rs1057519527
ensembl	rs1057519527
geneview	rs1057519527
scholar	rs1057519527
google	rs1057519527
pharmgkb	rs1057519527
gwascentral	rs1057519527
openSNP	rs1057519527
23andMe	rs1057519527
SNPshot	rs1057519527
SNPdbe	rs1057519527
MSV3d	rs1057519527
GWAS Ctlg	rs1057519527

Max Magnitude

0

ClinVar
Risk	rs1057519527(A;A)
Alt	rs1057519527(A;A)
Reference	Rs1057519527(G;G)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166231253G>A
CLNSRC
CLNACC	RCV000417028.1,