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rs863225032

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225032(A;A)
Make rs863225032(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036171
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs863225032
ebirs863225032
HLIrs863225032
Exacrs863225032
Varsomers863225032
Maprs863225032
PheGenIrs863225032
hapmaprs863225032
1000 genomesrs863225032
hgdprs863225032
ensemblrs863225032
gopubmedrs863225032
geneviewrs863225032
scholarrs863225032
googlers863225032
pharmgkbrs863225032
gwascentralrs863225032
openSNPrs863225032
23andMers863225032
23andMe allrs863225032
SNP Nexus

SNPshotrs863225032
SNPdbers863225032
MSV3drs863225032
GWAS Ctlgrs863225032
Max Magnitude0
ClinVar
Risk rs863225032(A;A)
Alt rs863225032(A;A)
Reference rs863225032(C;C)
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.166892681G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201200.1,