rs1057518671

Orientation

minus

Stabilized

minus

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

Make rs1057518671(C;C)

Make rs1057518671(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165991924

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057518671
dbSNP (classic)	rs1057518671
ClinGen	rs1057518671
ebi	rs1057518671
HLI	rs1057518671
Exac	rs1057518671
Gnomad	rs1057518671
Varsome	rs1057518671
LitVar	rs1057518671
Map	rs1057518671
PheGenI	rs1057518671
Biobank	rs1057518671
1000 genomes	rs1057518671
hgdp	rs1057518671
ensembl	rs1057518671
geneview	rs1057518671
scholar	rs1057518671
google	rs1057518671
pharmgkb	rs1057518671
gwascentral	rs1057518671
openSNP	rs1057518671
23andMe	rs1057518671
SNPshot	rs1057518671
SNPdbe	rs1057518671
MSV3d	rs1057518671
GWAS Ctlg	rs1057518671

Max Magnitude

0

ClinVar
Risk	rs1057518671(C;C)
Alt	rs1057518671(C;C)
Reference	Rs1057518671(T;T)
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.166848434A>G
CLNSRC
CLNACC	RCV000414903.1,