rs863225032

Orientation

minus

Stabilized

minus

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

Make rs863225032(A;A)

Make rs863225032(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166036171

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs863225032
dbSNP (classic)	rs863225032
ClinGen	rs863225032
ebi	rs863225032
HLI	rs863225032
Exac	rs863225032
Gnomad	rs863225032
Varsome	rs863225032
LitVar	rs863225032
Map	rs863225032
PheGenI	rs863225032
Biobank	rs863225032
1000 genomes	rs863225032
hgdp	rs863225032
ensembl	rs863225032
geneview	rs863225032
scholar	rs863225032
google	rs863225032
pharmgkb	rs863225032
gwascentral	rs863225032
openSNP	rs863225032
23andMe	rs863225032
SNPshot	rs863225032
SNPdbe	rs863225032
MSV3d	rs863225032
GWAS Ctlg	rs863225032

Max Magnitude

0

ClinVar
Risk	rs863225032(A;A)
Alt	rs863225032(A;A)
Reference	Rs863225032(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166892681G>T
CLNSRC	Quest Diagnostics
CLNACC	RCV000201200.1,