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rs690016544

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs690016544(A;G)
Make rs690016544(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position681186
GeneJMJD8, LOC105371184, STUB1
is asnp
is mentioned by
dbSNPrs690016544
ebirs690016544
HLIrs690016544
Exacrs690016544
Varsomers690016544
Maprs690016544
PheGenIrs690016544
hapmaprs690016544
1000 genomesrs690016544
hgdprs690016544
ensemblrs690016544
gopubmedrs690016544
geneviewrs690016544
scholarrs690016544
googlers690016544
pharmgkbrs690016544
gwascentralrs690016544
openSNPrs690016544
23andMers690016544
23andMe allrs690016544
SNP Nexus

SNPshotrs690016544
SNPdbers690016544
MSV3drs690016544
GWAS Ctlgrs690016544
Max Magnitude0
ClinVar
Risk rs690016544(G;G)
Alt rs690016544(G;G)
Reference rs690016544(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene JMJD8 STUB1
CLNDBN Spinocerebellar ataxia, autosomal recessive 16
Reversed 0
HGVS NC_000016.9:g.731186A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149509.4,