rs1057519534

Orientation

minus

Stabilized

minus

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

Make rs1057519534(-;T)

Make rs1057519534(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166013758

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519534
dbSNP (classic)	rs1057519534
ClinGen	rs1057519534
ebi	rs1057519534
HLI	rs1057519534
Exac	rs1057519534
Gnomad	rs1057519534
Varsome	rs1057519534
LitVar	rs1057519534
Map	rs1057519534
PheGenI	rs1057519534
Biobank	rs1057519534
1000 genomes	rs1057519534
hgdp	rs1057519534
ensembl	rs1057519534
geneview	rs1057519534
scholar	rs1057519534
google	rs1057519534
pharmgkb	rs1057519534
gwascentral	rs1057519534
openSNP	rs1057519534
23andMe	rs1057519534
SNPshot	rs1057519534
SNPdbe	rs1057519534
MSV3d	rs1057519534
GWAS Ctlg	rs1057519534

Max Magnitude

0

ClinVar
Risk	rs1057519534(T;T)
Alt	rs1057519534(T;T)
Reference	Rs1057519534(-;-)
Significance	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.166870269dupA
CLNSRC
CLNACC	RCV000416955.1,