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rs878853250

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853250(C;C)
Make rs878853250(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position51699663
GeneSCN8A
is asnp
is mentioned by
dbSNPrs878853250
ebirs878853250
HLIrs878853250
Exacrs878853250
Varsomers878853250
Maprs878853250
PheGenIrs878853250
hapmaprs878853250
1000 genomesrs878853250
hgdprs878853250
ensemblrs878853250
gopubmedrs878853250
geneviewrs878853250
scholarrs878853250
googlers878853250
pharmgkbrs878853250
gwascentralrs878853250
openSNPrs878853250
23andMers878853250
23andMe allrs878853250
SNP Nexus

SNPshotrs878853250
SNPdbers878853250
MSV3drs878853250
GWAS Ctlgrs878853250
Max Magnitude0
ClinVar
Risk rs878853250(C;C)
Alt rs878853250(C;C)
Reference rs878853250(T;T)
Significance Pathogenic
Disease Developmental regression Developmental stagnation at onset of seizures Epileptic encephalopathy Generalized tonic seizures Global developmental delay Intellectual disability
Variation info
Gene SCN8A
CLNDBN Developmental regression Developmental stagnation at onset of seizures Epileptic encephalopathy Generalized tonic seizures Global developmental delay Intellectual disability, severe
Reversed 0
HGVS NC_000012.11:g.52093447T>C
CLNSRC
CLNACC RCV000225160.1,