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rs878853281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853281(A;A)
Make rs878853281(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position109141360
GeneFRRS1L
is asnp
is mentioned by
dbSNPrs878853281
dbSNP (classic)rs878853281
ClinGenrs878853281
ebirs878853281
HLIrs878853281
Exacrs878853281
Gnomadrs878853281
Varsomers878853281
LitVarrs878853281
Maprs878853281
PheGenIrs878853281
Biobankrs878853281
1000 genomesrs878853281
hgdprs878853281
ensemblrs878853281
geneviewrs878853281
scholarrs878853281
googlers878853281
pharmgkbrs878853281
gwascentralrs878853281
openSNPrs878853281
23andMers878853281
SNPshotrs878853281
SNPdbers878853281
MSV3drs878853281
GWAS Ctlgrs878853281
Max Magnitude0
ClinVar
Risk rs878853281(A;A)
Alt rs878853281(A;A)
Reference Rs878853281(G;G)
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.111903640C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000225178.2, RCV000239392.1,