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rs878853280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853280(C;T)
Make rs878853280(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position109137529
GeneFRRS1L
is asnp
is mentioned by
dbSNPrs878853280
dbSNP (classic)rs878853280
ClinGenrs878853280
ebirs878853280
HLIrs878853280
Exacrs878853280
Gnomadrs878853280
Varsomers878853280
LitVarrs878853280
Maprs878853280
PheGenIrs878853280
Biobankrs878853280
1000 genomesrs878853280
hgdprs878853280
ensemblrs878853280
geneviewrs878853280
scholarrs878853280
googlers878853280
pharmgkbrs878853280
gwascentralrs878853280
openSNPrs878853280
23andMers878853280
SNPshotrs878853280
SNPdbers878853280
MSV3drs878853280
GWAS Ctlgrs878853280
Max Magnitude0
ClinVar
Risk rs878853280(T;T)
Alt rs878853280(T;T)
Reference Rs878853280(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy Chorea Progressive encephalopathy Seizures
Variation info
Gene FRRS1L
CLNDBN Epileptic encephalopathy, early infantile, 37 Chorea Progressive encephalopathy Seizures
Reversed 1
HGVS NC_000009.11:g.111899809G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000225353.2, RCV000239395.1,