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rs863225033

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225033(A;A)
Make rs863225033(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013792
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs863225033
ebirs863225033
HLIrs863225033
Exacrs863225033
Varsomers863225033
Maprs863225033
PheGenIrs863225033
hapmaprs863225033
1000 genomesrs863225033
hgdprs863225033
ensemblrs863225033
gopubmedrs863225033
geneviewrs863225033
scholarrs863225033
googlers863225033
pharmgkbrs863225033
gwascentralrs863225033
openSNPrs863225033
23andMers863225033
23andMe allrs863225033
SNP Nexus

SNPshotrs863225033
SNPdbers863225033
MSV3drs863225033
GWAS Ctlgrs863225033
Max Magnitude0
ClinVar
Risk rs863225033(A;A)
Alt rs863225033(A;A)
Reference rs863225033(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.166870302C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201129.1,