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rs398122959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122959(G;G)
Make rs398122959(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6615199
GeneTPP1
is asnp
is mentioned by
dbSNPrs398122959
ebirs398122959
HLIrs398122959
Exacrs398122959
Varsomers398122959
Maprs398122959
PheGenIrs398122959
hapmaprs398122959
1000 genomesrs398122959
hgdprs398122959
ensemblrs398122959
gopubmedrs398122959
geneviewrs398122959
scholarrs398122959
googlers398122959
pharmgkbrs398122959
gwascentralrs398122959
openSNPrs398122959
23andMers398122959
23andMe allrs398122959
SNP Nexus

SNPshotrs398122959
SNPdbers398122959
MSV3drs398122959
GWAS Ctlgrs398122959
Max Magnitude0
ClinVar
Risk rs398122959(G;G)
Alt rs398122959(G;G)
Reference rs398122959(T;T)
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.6636430A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074609.4,