rs542420576

Orientation

plus

Stabilized

plus

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

Make rs542420576(G;T)

Make rs542420576(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166036371

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs542420576
dbSNP (classic)	rs542420576
ClinGen	rs542420576
ebi	rs542420576
HLI	rs542420576
Exac	rs542420576
Gnomad	rs542420576
Varsome	rs542420576
LitVar	rs542420576
Map	rs542420576
PheGenI	rs542420576
Biobank	rs542420576
1000 genomes	rs542420576
hgdp	rs542420576
ensembl	rs542420576
geneview	rs542420576
scholar	rs542420576
google	rs542420576
pharmgkb	rs542420576
gwascentral	rs542420576
openSNP	rs542420576
23andMe	rs542420576
SNPshot	rs542420576
SNPdbe	rs542420576
MSV3d	rs542420576
GWAS Ctlg	rs542420576

Max Magnitude

0

ClinVar
Risk	rs542420576(A;A) rs542420576(T;T)
Alt	rs542420576(A;A) rs542420576(T;T)
Reference	Rs542420576(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	0
HGVS	NC_000002.11:g.166892881G>A
CLNSRC	Peking University
CLNACC	RCV000180930.1,