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rs542420576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs542420576(G;T)
Make rs542420576(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166036371
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs542420576
ebirs542420576
HLIrs542420576
Exacrs542420576
Varsomers542420576
Maprs542420576
PheGenIrs542420576
hapmaprs542420576
1000 genomesrs542420576
hgdprs542420576
ensemblrs542420576
gopubmedrs542420576
geneviewrs542420576
scholarrs542420576
googlers542420576
pharmgkbrs542420576
gwascentralrs542420576
openSNPrs542420576
23andMers542420576
23andMe allrs542420576
SNP Nexus

SNPshotrs542420576
SNPdbers542420576
MSV3drs542420576
GWAS Ctlgrs542420576
Max Magnitude0
ClinVar
Risk rs542420576(A,T;A,T)
Alt rs542420576(A,T;A,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,