rs1057521537

Orientation

minus

Stabilized

minus

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

Make rs1057521537(C;C)

Make rs1057521537(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166002695

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057521537
dbSNP (classic)	rs1057521537
ClinGen	rs1057521537
ebi	rs1057521537
HLI	rs1057521537
Exac	rs1057521537
Gnomad	rs1057521537
Varsome	rs1057521537
LitVar	rs1057521537
Map	rs1057521537
PheGenI	rs1057521537
Biobank	rs1057521537
1000 genomes	rs1057521537
hgdp	rs1057521537
ensembl	rs1057521537
geneview	rs1057521537
scholar	rs1057521537
google	rs1057521537
pharmgkb	rs1057521537
gwascentral	rs1057521537
openSNP	rs1057521537
23andMe	rs1057521537
SNPshot	rs1057521537
SNPdbe	rs1057521537
MSV3d	rs1057521537
GWAS Ctlg	rs1057521537

Max Magnitude

0

ClinVar
Risk	rs1057521537(C;C) rs1057521537(T;T)
Alt	rs1057521537(C;C) rs1057521537(T;T)
Reference	Rs1057521537(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Early infantile epileptic encephalopathy not provided
Reversed	1
HGVS	NC_000002.11:g.166859205C>A; NC_000002.11:g.166859205C>G
CLNSRC
CLNACC	RCV000474675.1, RCV000439959.1,