rs863225030

Orientation

minus

Stabilized

minus

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

Make rs863225030(G;T)

Make rs863225030(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166048885

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs863225030
dbSNP (classic)	rs863225030
ClinGen	rs863225030
ebi	rs863225030
HLI	rs863225030
Exac	rs863225030
Gnomad	rs863225030
Varsome	rs863225030
LitVar	rs863225030
Map	rs863225030
PheGenI	rs863225030
Biobank	rs863225030
1000 genomes	rs863225030
hgdp	rs863225030
ensembl	rs863225030
geneview	rs863225030
scholar	rs863225030
google	rs863225030
pharmgkb	rs863225030
gwascentral	rs863225030
openSNP	rs863225030
23andMe	rs863225030
SNPshot	rs863225030
SNPdbe	rs863225030
MSV3d	rs863225030
GWAS Ctlg	rs863225030

Max Magnitude

0

ClinVar
Risk	rs863225030(T;T)
Alt	rs863225030(T;T)
Reference	Rs863225030(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166905395C>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000201025.1,