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rs587784477

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784477(C;C)
Make rs587784477(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position75524342
GeneLLGL2, TSEN54
is asnp
is mentioned by
dbSNPrs587784477
ebirs587784477
HLIrs587784477
Exacrs587784477
Varsomers587784477
Maprs587784477
PheGenIrs587784477
hapmaprs587784477
1000 genomesrs587784477
hgdprs587784477
ensemblrs587784477
gopubmedrs587784477
geneviewrs587784477
scholarrs587784477
googlers587784477
pharmgkbrs587784477
gwascentralrs587784477
openSNPrs587784477
23andMers587784477
23andMe allrs587784477
SNP Nexus

SNPshotrs587784477
SNPdbers587784477
MSV3drs587784477
GWAS Ctlgrs587784477
Max Magnitude0
ClinVar
Risk rs587784477(C;C)
Alt rs587784477(C;C)
Reference rs587784477(T;T)
Significance Probable-Pathogenic
Disease Olivopontocerebellar hypoplasia
Variation info
Gene TSEN54 LLGL2
CLNDBN Olivopontocerebellar hypoplasia
Reversed 0
HGVS NC_000017.10:g.73520423T>C
CLNSRC
CLNACC RCV000147776.1,