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rs587777344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777344(C;G)
Make rs587777344(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position681446
GeneJMJD8, LOC105371184, STUB1
is asnp
is mentioned by
dbSNPrs587777344
dbSNP (classic)rs587777344
ClinGenrs587777344
ebirs587777344
HLIrs587777344
Exacrs587777344
Gnomadrs587777344
Varsomers587777344
LitVarrs587777344
Maprs587777344
PheGenIrs587777344
Biobankrs587777344
1000 genomesrs587777344
hgdprs587777344
ensemblrs587777344
geneviewrs587777344
scholarrs587777344
googlers587777344
pharmgkbrs587777344
gwascentralrs587777344
openSNPrs587777344
23andMers587777344
SNPshotrs587777344
SNPdbers587777344
MSV3drs587777344
GWAS Ctlgrs587777344
Max Magnitude0
ClinVar
Risk rs587777344(G;G) rs587777344(T;T)
Alt rs587777344(G;G) rs587777344(T;T)
Reference Rs587777344(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.731446C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000115002.3,