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rs863225031

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225031(A;A)
Make rs863225031(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166073373
GeneSCN1A
is asnp
is mentioned by
dbSNPrs863225031
ebirs863225031
HLIrs863225031
Exacrs863225031
Varsomers863225031
Maprs863225031
PheGenIrs863225031
hapmaprs863225031
1000 genomesrs863225031
hgdprs863225031
ensemblrs863225031
gopubmedrs863225031
geneviewrs863225031
scholarrs863225031
googlers863225031
pharmgkbrs863225031
gwascentralrs863225031
openSNPrs863225031
23andMers863225031
23andMe allrs863225031
SNP Nexus

SNPshotrs863225031
SNPdbers863225031
MSV3drs863225031
GWAS Ctlgrs863225031
Max Magnitude0
ClinVar
Risk rs863225031(A;A)
Alt rs863225031(A;A)
Reference rs863225031(C;C)
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.166929883G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201161.1,