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rs869312670

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312670(-;-)
Make rs869312670(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position166013745
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs869312670
ebirs869312670
HLIrs869312670
Exacrs869312670
Varsomers869312670
Maprs869312670
PheGenIrs869312670
hapmaprs869312670
1000 genomesrs869312670
hgdprs869312670
ensemblrs869312670
gopubmedrs869312670
geneviewrs869312670
scholarrs869312670
googlers869312670
pharmgkbrs869312670
gwascentralrs869312670
openSNPrs869312670
23andMers869312670
23andMe allrs869312670
SNP Nexus

SNPshotrs869312670
SNPdbers869312670
MSV3drs869312670
GWAS Ctlgrs869312670
Max Magnitude0
ClinVar
Risk rs869312670(;)
Alt rs869312670(;)
Reference rs869312670(T;T)
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.166870255delA
CLNSRC
CLNACC RCV000209833.1,