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rs587777343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777343(C;T)
Make rs587777343(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position682232
GeneJMJD8, STUB1
is asnp
is mentioned by
dbSNPrs587777343
ebirs587777343
HLIrs587777343
Exacrs587777343
Varsomers587777343
Maprs587777343
PheGenIrs587777343
hapmaprs587777343
1000 genomesrs587777343
hgdprs587777343
ensemblrs587777343
gopubmedrs587777343
geneviewrs587777343
scholarrs587777343
googlers587777343
pharmgkbrs587777343
gwascentralrs587777343
openSNPrs587777343
23andMers587777343
23andMe allrs587777343
SNP Nexus

SNPshotrs587777343
SNPdbers587777343
MSV3drs587777343
GWAS Ctlgrs587777343
Max Magnitude0
ClinVar
Risk rs587777343(T;T)
Alt rs587777343(T;T)
Reference rs587777343(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene JMJD8 STUB1
CLNDBN Spinocerebellar ataxia, autosomal recessive 16
Reversed 0
HGVS NC_000016.9:g.732232C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000115001.3,