rs1057519530

Orientation

minus

Stabilized

minus

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

Make rs1057519530(C;C)

Make rs1057519530(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166052864

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519530
dbSNP (classic)	rs1057519530
ClinGen	rs1057519530
ebi	rs1057519530
HLI	rs1057519530
Exac	rs1057519530
Gnomad	rs1057519530
Varsome	rs1057519530
LitVar	rs1057519530
Map	rs1057519530
PheGenI	rs1057519530
Biobank	rs1057519530
1000 genomes	rs1057519530
hgdp	rs1057519530
ensembl	rs1057519530
geneview	rs1057519530
scholar	rs1057519530
google	rs1057519530
pharmgkb	rs1057519530
gwascentral	rs1057519530
openSNP	rs1057519530
23andMe	rs1057519530
SNPshot	rs1057519530
SNPdbe	rs1057519530
MSV3d	rs1057519530
GWAS Ctlg	rs1057519530

Max Magnitude

0

ClinVar
Risk	rs1057519530(C;C)
Alt	rs1057519530(C;C)
Reference	Rs1057519530(T;T)
Significance	Probable-Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166909374A>G
CLNSRC
CLNACC	RCV000416974.1,