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rs397514459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514459(C;G)
Make rs397514459(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166039428
GeneSCN1A
is asnp
is mentioned by
dbSNPrs397514459
ebirs397514459
HLIrs397514459
Exacrs397514459
Varsomers397514459
Maprs397514459
PheGenIrs397514459
hapmaprs397514459
1000 genomesrs397514459
hgdprs397514459
ensemblrs397514459
gopubmedrs397514459
geneviewrs397514459
scholarrs397514459
googlers397514459
pharmgkbrs397514459
gwascentralrs397514459
openSNPrs397514459
23andMers397514459
23andMe allrs397514459
SNP Nexus

SNPshotrs397514459
SNPdbers397514459
MSV3drs397514459
GWAS Ctlgrs397514459
Max Magnitude0
ClinVar
Risk rs397514459(G,T;G,T)
Alt rs397514459(G,T;G,T)
Reference rs397514459(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166895938G>A; NC_000002.11:g.166895938G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000174713.1, RCV000174714.2, RCV000022765.24,