rs796053014

Orientation

minus

Stabilized

minus

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

Make rs796053014(A;G)

Make rs796053014(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165998037

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs796053014
dbSNP (classic)	rs796053014
ClinGen	rs796053014
ebi	rs796053014
HLI	rs796053014
Exac	rs796053014
Gnomad	rs796053014
Varsome	rs796053014
LitVar	rs796053014
Map	rs796053014
PheGenI	rs796053014
Biobank	rs796053014
1000 genomes	rs796053014
hgdp	rs796053014
ensembl	rs796053014
geneview	rs796053014
scholar	rs796053014
google	rs796053014
pharmgkb	rs796053014
gwascentral	rs796053014
openSNP	rs796053014
23andMe	rs796053014
SNPshot	rs796053014
SNPdbe	rs796053014
MSV3d	rs796053014
GWAS Ctlg	rs796053014

Max Magnitude

0

ClinVar
Risk	rs796053014(G;G) rs796053014(T;T)
Alt	rs796053014(G;G) rs796053014(T;T)
Reference	Rs796053014(A;A)
Significance	Pathogenic
Disease	not provided Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	not provided Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166854547T>A; NC_000002.11:g.166854547T>C
CLNSRC	Quest Diagnostics
CLNACC	RCV000188956.1, RCV000188953.1, RCV000201073.1,