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rs886037833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037833(C;C)
Make rs886037833(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position6616361
GeneTPP1
is asnp
is mentioned by
dbSNPrs886037833
dbSNP (classic)rs886037833
ClinGenrs886037833
ebirs886037833
HLIrs886037833
Exacrs886037833
Gnomadrs886037833
Varsomers886037833
LitVarrs886037833
Maprs886037833
PheGenIrs886037833
Biobankrs886037833
1000 genomesrs886037833
hgdprs886037833
ensemblrs886037833
geneviewrs886037833
scholarrs886037833
googlers886037833
pharmgkbrs886037833
gwascentralrs886037833
openSNPrs886037833
23andMers886037833
SNPshotrs886037833
SNPdbers886037833
MSV3drs886037833
GWAS Ctlgrs886037833
Max Magnitude0
ClinVar
Risk rs886037833(C;C)
Alt rs886037833(C;C)
Reference Rs886037833(G;G)
Significance Pathogenic
Disease Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Variation info
Gene TPP1
CLNDBN Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Reversed 1
HGVS NC_000011.9:g.6637592C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000211004.1,