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rs587777347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777347(A;A)
Make rs587777347(A;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position681228
GeneJMJD8, LOC105371184, STUB1
is asnp
is mentioned by
dbSNPrs587777347
dbSNP (old)rs587777347
ClinGenrs587777347
ebirs587777347
HLIrs587777347
Exacrs587777347
Gnomadrs587777347
Varsomers587777347
Maprs587777347
PheGenIrs587777347
Biobankrs587777347
1000 genomesrs587777347
hgdprs587777347
ensemblrs587777347
gopubmedrs587777347
geneviewrs587777347
scholarrs587777347
googlers587777347
pharmgkbrs587777347
gwascentralrs587777347
openSNPrs587777347
23andMers587777347
23andMe allrs587777347
SNP Nexus

SNPshotrs587777347
SNPdbers587777347
MSV3drs587777347
GWAS Ctlgrs587777347
Max Magnitude0
ClinVar
Risk rs587777347(A;A)
Alt rs587777347(A;A)
Reference Rs587777347(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.731228C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000115005.3,