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rs796053054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796053054(-;T)
Make rs796053054(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166054635
GeneSCN1A
is asnp
is mentioned by
dbSNPrs796053054
dbSNP (old)rs796053054
ClinGenrs796053054
ebirs796053054
HLIrs796053054
Exacrs796053054
Gnomadrs796053054
Varsomers796053054
Maprs796053054
PheGenIrs796053054
Biobankrs796053054
1000 genomesrs796053054
hgdprs796053054
ensemblrs796053054
gopubmedrs796053054
geneviewrs796053054
scholarrs796053054
googlers796053054
pharmgkbrs796053054
gwascentralrs796053054
openSNPrs796053054
23andMers796053054
23andMe allrs796053054
SNP Nexus

SNPshotrs796053054
SNPdbers796053054
MSV3drs796053054
GWAS Ctlgrs796053054
Max Magnitude0
ClinVar
Risk rs796053054(T;T)
Alt rs796053054(T;T)
Reference Rs796053054(-;-)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy
Variation info
Gene SCN1A
CLNDBN not provided Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166911146dupA
CLNSRC
CLNACC RCV000189034.1, RCV000456491.1,