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rs863225034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225034(-;-)
Make rs863225034(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012136
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs863225034
dbSNP (old)rs863225034
ClinGenrs863225034
ebirs863225034
HLIrs863225034
Exacrs863225034
Varsomers863225034
Maprs863225034
PheGenIrs863225034
Biobankrs863225034
1000 genomesrs863225034
hgdprs863225034
ensemblrs863225034
gopubmedrs863225034
geneviewrs863225034
scholarrs863225034
googlers863225034
pharmgkbrs863225034
gwascentralrs863225034
openSNPrs863225034
23andMers863225034
23andMe allrs863225034
SNP Nexus

SNPshotrs863225034
SNPdbers863225034
MSV3drs863225034
GWAS Ctlgrs863225034
Max Magnitude0
ClinVar
Risk rs863225034(-;-)
Alt rs863225034(-;-)
Reference Rs863225034(G;G)
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.166868646delC
CLNSRC Quest Diagnostics
CLNACC RCV000201064.1,