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rs587777340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777340(C;T)
Make rs587777340(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position681572
GeneJMJD8, LOC105371184, STUB1
is asnp
is mentioned by
dbSNPrs587777340
dbSNP (classic)rs587777340
ClinGenrs587777340
ebirs587777340
HLIrs587777340
Exacrs587777340
Gnomadrs587777340
Varsomers587777340
LitVarrs587777340
Maprs587777340
PheGenIrs587777340
Biobankrs587777340
1000 genomesrs587777340
hgdprs587777340
ensemblrs587777340
geneviewrs587777340
scholarrs587777340
googlers587777340
pharmgkbrs587777340
gwascentralrs587777340
openSNPrs587777340
23andMers587777340
SNPshotrs587777340
SNPdbers587777340
MSV3drs587777340
GWAS Ctlgrs587777340
Max Magnitude0
ClinVar
Risk rs587777340(T;T)
Alt rs587777340(T;T)
Reference Rs587777340(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene JMJD8 STUB1 LOC105371184
CLNDBN Spinocerebellar ataxia, autosomal recessive 16
Reversed 0
HGVS NC_000016.9:g.731572C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114998.2,