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rs587777341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777341(A;T)
Make rs587777341(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position681468
GeneJMJD8, LOC105371184, STUB1
is asnp
is mentioned by
dbSNPrs587777341
dbSNP (classic)rs587777341
ClinGenrs587777341
ebirs587777341
HLIrs587777341
Exacrs587777341
Gnomadrs587777341
Varsomers587777341
LitVarrs587777341
Maprs587777341
PheGenIrs587777341
Biobankrs587777341
1000 genomesrs587777341
hgdprs587777341
ensemblrs587777341
geneviewrs587777341
scholarrs587777341
googlers587777341
pharmgkbrs587777341
gwascentralrs587777341
openSNPrs587777341
23andMers587777341
SNPshotrs587777341
SNPdbers587777341
MSV3drs587777341
GWAS Ctlgrs587777341
Max Magnitude0
ClinVar
Risk rs587777341(T;T)
Alt rs587777341(T;T)
Reference Rs587777341(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene JMJD8 STUB1 LOC105371184
CLNDBN Spinocerebellar ataxia, autosomal recessive 16
Reversed 0
HGVS NC_000016.9:g.731468A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114999.3,