rs1057519529

Orientation

minus

Stabilized

minus

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

Make rs1057519529(C;C)

Make rs1057519529(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166043864

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519529
dbSNP (classic)	rs1057519529
ClinGen	rs1057519529
ebi	rs1057519529
HLI	rs1057519529
Exac	rs1057519529
Gnomad	rs1057519529
Varsome	rs1057519529
LitVar	rs1057519529
Map	rs1057519529
PheGenI	rs1057519529
Biobank	rs1057519529
1000 genomes	rs1057519529
hgdp	rs1057519529
ensembl	rs1057519529
geneview	rs1057519529
scholar	rs1057519529
google	rs1057519529
pharmgkb	rs1057519529
gwascentral	rs1057519529
openSNP	rs1057519529
23andMe	rs1057519529
SNPshot	rs1057519529
SNPdbe	rs1057519529
MSV3d	rs1057519529
GWAS Ctlg	rs1057519529

Max Magnitude

0

ClinVar
Risk	rs1057519529(C;C)
Alt	rs1057519529(C;C)
Reference	Rs1057519529(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SCN1A
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166900374C>G
CLNSRC
CLNACC	RCV000417000.1,