rs1060502187

Orientation

minus

Stabilized

minus

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

Make rs1060502187(-;-)

Make rs1060502187(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166058641

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1060502187
dbSNP (classic)	rs1060502187
ClinGen	rs1060502187
ebi	rs1060502187
HLI	rs1060502187
Exac	rs1060502187
Gnomad	rs1060502187
Varsome	rs1060502187
LitVar	rs1060502187
Map	rs1060502187
PheGenI	rs1060502187
Biobank	rs1060502187
1000 genomes	rs1060502187
hgdp	rs1060502187
ensembl	rs1060502187
geneview	rs1060502187
scholar	rs1060502187
google	rs1060502187
pharmgkb	rs1060502187
gwascentral	rs1060502187
openSNP	rs1060502187
23andMe	rs1060502187
SNPshot	rs1060502187
SNPdbe	rs1060502187
MSV3d	rs1060502187
GWAS Ctlg	rs1060502187

Max Magnitude

0

ClinVar
Risk	rs1060502187(-;-)
Alt	rs1060502187(-;-)
Reference	Rs1060502187(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	SCN1A
CLNDBN	Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166915151delG
CLNSRC
CLNACC	RCV000467130.1,