rs1057519533

Orientation

minus

Stabilized

minus

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

Make rs1057519533(A;T)

Make rs1057519533(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165994184

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519533
dbSNP (classic)	rs1057519533
ClinGen	rs1057519533
ebi	rs1057519533
HLI	rs1057519533
Exac	rs1057519533
Gnomad	rs1057519533
Varsome	rs1057519533
LitVar	rs1057519533
Map	rs1057519533
PheGenI	rs1057519533
Biobank	rs1057519533
1000 genomes	rs1057519533
hgdp	rs1057519533
ensembl	rs1057519533
geneview	rs1057519533
scholar	rs1057519533
google	rs1057519533
pharmgkb	rs1057519533
gwascentral	rs1057519533
openSNP	rs1057519533
23andMe	rs1057519533
SNPshot	rs1057519533
SNPdbe	rs1057519533
MSV3d	rs1057519533
GWAS Ctlg	rs1057519533

Max Magnitude

0

ClinVar
Risk	rs1057519533(T;T)
Alt	rs1057519533(T;T)
Reference	Rs1057519533(A;A)
Significance	Probable-Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166850694T>A
CLNSRC
CLNACC	RCV000417022.1,