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rs863225030

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225030(G;T)
Make rs863225030(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048885
GeneSCN1A
is asnp
is mentioned by
dbSNPrs863225030
ebirs863225030
HLIrs863225030
Exacrs863225030
Varsomers863225030
Maprs863225030
PheGenIrs863225030
hapmaprs863225030
1000 genomesrs863225030
hgdprs863225030
ensemblrs863225030
gopubmedrs863225030
geneviewrs863225030
scholarrs863225030
googlers863225030
pharmgkbrs863225030
gwascentralrs863225030
openSNPrs863225030
23andMers863225030
23andMe allrs863225030
SNP Nexus

SNPshotrs863225030
SNPdbers863225030
MSV3drs863225030
GWAS Ctlgrs863225030
Max Magnitude0
ClinVar
Risk rs863225030(T;T)
Alt rs863225030(T;T)
Reference rs863225030(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166905395C>A
CLNSRC Quest Diagnostics
CLNACC RCV000201025.1,