rs1057519531

Orientation

minus

Stabilized

minus

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

Make rs1057519531(A;G)

Make rs1057519531(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166052945

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519531
dbSNP (classic)	rs1057519531
ClinGen	rs1057519531
ebi	rs1057519531
HLI	rs1057519531
Exac	rs1057519531
Gnomad	rs1057519531
Varsome	rs1057519531
LitVar	rs1057519531
Map	rs1057519531
PheGenI	rs1057519531
Biobank	rs1057519531
1000 genomes	rs1057519531
hgdp	rs1057519531
ensembl	rs1057519531
geneview	rs1057519531
scholar	rs1057519531
google	rs1057519531
pharmgkb	rs1057519531
gwascentral	rs1057519531
openSNP	rs1057519531
23andMe	rs1057519531
SNPshot	rs1057519531
SNPdbe	rs1057519531
MSV3d	rs1057519531
GWAS Ctlg	rs1057519531

Max Magnitude

0

ClinVar
Risk	rs1057519531(G;G)
Alt	rs1057519531(G;G)
Reference	Rs1057519531(A;A)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166909455T>C
CLNSRC
CLNACC	RCV000417006.1,