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rs587784479

From SNPedia

Orientationplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs587784479(-;-)
Make rs587784479(-;AC)
Make rs587784479(AC;AC)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position75521462
GeneTSEN54
is asnp
is mentioned by
dbSNPrs587784479
ebirs587784479
HLIrs587784479
Exacrs587784479
Varsomers587784479
Maprs587784479
PheGenIrs587784479
hapmaprs587784479
1000 genomesrs587784479
hgdprs587784479
ensemblrs587784479
gopubmedrs587784479
geneviewrs587784479
scholarrs587784479
googlers587784479
pharmgkbrs587784479
gwascentralrs587784479
openSNPrs587784479
23andMers587784479
23andMe allrs587784479
SNP Nexus

SNPshotrs587784479
SNPdbers587784479
MSV3drs587784479
GWAS Ctlgrs587784479
Max Magnitude0
ClinVar
Risk rs587784479(;)
Alt rs587784479(;)
Reference rs587784479(CA;CA)
Significance Pathogenic
Disease Olivopontocerebellar hypoplasia
Variation info
Gene TSEN54
CLNDBN Olivopontocerebellar hypoplasia
Reversed 0
HGVS NC_000017.10:g.73517543_73517544delAC
CLNSRC
CLNACC RCV000147787.1,