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rs878853283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs878853283(-;A)
Make rs878853283(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position109149675
GeneFRRS1L
is asnp
is mentioned by
dbSNPrs878853283
dbSNP (classic)rs878853283
ClinGenrs878853283
ebirs878853283
HLIrs878853283
Exacrs878853283
Gnomadrs878853283
Varsomers878853283
LitVarrs878853283
Maprs878853283
PheGenIrs878853283
Biobankrs878853283
1000 genomesrs878853283
hgdprs878853283
ensemblrs878853283
geneviewrs878853283
scholarrs878853283
googlers878853283
pharmgkbrs878853283
gwascentralrs878853283
openSNPrs878853283
23andMers878853283
SNPshotrs878853283
SNPdbers878853283
MSV3drs878853283
GWAS Ctlgrs878853283
Max Magnitude0
ClinVar
Risk rs878853283(A;A)
Alt rs878853283(A;A)
Reference Rs878853283(-;-)
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.111911956dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000225128.2, RCV000239396.1,