rs1060502185

Orientation

minus

Stabilized

minus

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

Make rs1060502185(C;G)

Make rs1060502185(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166058565

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1060502185
dbSNP (classic)	rs1060502185
ClinGen	rs1060502185
ebi	rs1060502185
HLI	rs1060502185
Exac	rs1060502185
Gnomad	rs1060502185
Varsome	rs1060502185
LitVar	rs1060502185
Map	rs1060502185
PheGenI	rs1060502185
Biobank	rs1060502185
1000 genomes	rs1060502185
hgdp	rs1060502185
ensembl	rs1060502185
geneview	rs1060502185
scholar	rs1060502185
google	rs1060502185
pharmgkb	rs1060502185
gwascentral	rs1060502185
openSNP	rs1060502185
23andMe	rs1060502185
SNPshot	rs1060502185
SNPdbe	rs1060502185
MSV3d	rs1060502185
GWAS Ctlg	rs1060502185

Max Magnitude

0

ClinVar
Risk	rs1060502185(A;A) rs1060502185(G;G)
Alt	rs1060502185(A;A) rs1060502185(G;G)
Reference	Rs1060502185(C;C)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy not provided
Variation	info
Gene	SCN1A
CLNDBN	Early infantile epileptic encephalopathy not provided
Reversed	1
HGVS	NC_000002.11:g.166915075G>C; NC_000002.11:g.166915075G>T
CLNSRC
CLNACC	RCV000468024.1, RCV000489621.1,