Have questions? Visit https://www.reddit.com/r/SNPedia

rs878853282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs878853282(-;-)
Make rs878853282(-;GAG)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position109141466
GeneFRRS1L
is asnp
is mentioned by
dbSNPrs878853282
dbSNP (classic)rs878853282
ClinGenrs878853282
ebirs878853282
HLIrs878853282
Exacrs878853282
Gnomadrs878853282
Varsomers878853282
LitVarrs878853282
Maprs878853282
PheGenIrs878853282
Biobankrs878853282
1000 genomesrs878853282
hgdprs878853282
ensemblrs878853282
geneviewrs878853282
scholarrs878853282
googlers878853282
pharmgkbrs878853282
gwascentralrs878853282
openSNPrs878853282
23andMers878853282
SNPshotrs878853282
SNPdbers878853282
MSV3drs878853282
GWAS Ctlgrs878853282
Max Magnitude0
ClinVar
Risk rs878853282(-;-)
Alt rs878853282(-;-)
Reference Rs878853282(GAG;GAG)
Significance Pathogenic
Disease Epileptic encephalopathy Chorea Progressive encephalopathy Seizures not provided
Variation info
Gene FRRS1L
CLNDBN Epileptic encephalopathy, early infantile, 37 Chorea Progressive encephalopathy Seizures not provided
Reversed 1
HGVS NC_000009.11:g.111903746_111903748delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000225276.2, RCV000239394.1, RCV000483198.1,