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rs397514458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514458(A;A)
Make rs397514458(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165992269
GeneSCN1A
is asnp
is mentioned by
dbSNPrs397514458
ebirs397514458
HLIrs397514458
Exacrs397514458
Varsomers397514458
Maprs397514458
PheGenIrs397514458
hapmaprs397514458
1000 genomesrs397514458
hgdprs397514458
ensemblrs397514458
gopubmedrs397514458
geneviewrs397514458
scholarrs397514458
googlers397514458
pharmgkbrs397514458
gwascentralrs397514458
openSNPrs397514458
23andMers397514458
23andMe allrs397514458
SNP Nexus

SNPshotrs397514458
SNPdbers397514458
MSV3drs397514458
GWAS Ctlgrs397514458
Max Magnitude0
ClinVar
Risk rs397514458(A;A)
Alt rs397514458(A;A)
Reference rs397514458(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.166848779G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022764.19,