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rs587784476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784476(-;-)
Make rs587784476(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position75523684
GeneLLGL2, LOC107985023, TSEN54
is asnp
is mentioned by
dbSNPrs587784476
dbSNP (classic)rs587784476
ClinGenrs587784476
ebirs587784476
HLIrs587784476
Exacrs587784476
Gnomadrs587784476
Varsomers587784476
LitVarrs587784476
Maprs587784476
PheGenIrs587784476
Biobankrs587784476
1000 genomesrs587784476
hgdprs587784476
ensemblrs587784476
geneviewrs587784476
scholarrs587784476
googlers587784476
pharmgkbrs587784476
gwascentralrs587784476
openSNPrs587784476
23andMers587784476
SNPshotrs587784476
SNPdbers587784476
MSV3drs587784476
GWAS Ctlgrs587784476
Max Magnitude0
ClinVar
Risk rs587784476(-;-)
Alt rs587784476(-;-)
Reference Rs587784476(C;C)
Significance Pathogenic
Disease Olivopontocerebellar hypoplasia
Variation info
Gene TSEN54
CLNDBN Olivopontocerebellar hypoplasia
Reversed 0
HGVS NC_000017.10:g.73519765delC
CLNSRC
CLNACC RCV000147773.1,