rs1060502190

Orientation

minus

Stabilized

minus

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

Make rs1060502190(C;G)

Make rs1060502190(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166002489

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1060502190
dbSNP (classic)	rs1060502190
ClinGen	rs1060502190
ebi	rs1060502190
HLI	rs1060502190
Exac	rs1060502190
Gnomad	rs1060502190
Varsome	rs1060502190
LitVar	rs1060502190
Map	rs1060502190
PheGenI	rs1060502190
Biobank	rs1060502190
1000 genomes	rs1060502190
hgdp	rs1060502190
ensembl	rs1060502190
geneview	rs1060502190
scholar	rs1060502190
google	rs1060502190
pharmgkb	rs1060502190
gwascentral	rs1060502190
openSNP	rs1060502190
23andMe	rs1060502190
SNPshot	rs1060502190
SNPdbe	rs1060502190
MSV3d	rs1060502190
GWAS Ctlg	rs1060502190

Max Magnitude

0

ClinVar
Risk	rs1060502190(G;G)
Alt	rs1060502190(G;G)
Reference	Rs1060502190(C;C)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166858999G>C
CLNSRC
CLNACC	RCV000472521.1,