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rs397514478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514478(C;T)
Make rs397514478(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position42856341
GeneRNF170
is asnp
is mentioned by
dbSNPrs397514478
ebirs397514478
HLIrs397514478
Exacrs397514478
Varsomers397514478
Maprs397514478
PheGenIrs397514478
hapmaprs397514478
1000 genomesrs397514478
hgdprs397514478
ensemblrs397514478
gopubmedrs397514478
geneviewrs397514478
scholarrs397514478
googlers397514478
pharmgkbrs397514478
gwascentralrs397514478
openSNPrs397514478
23andMers397514478
23andMe allrs397514478
SNP Nexus

SNPshotrs397514478
SNPdbers397514478
MSV3drs397514478
GWAS Ctlgrs397514478
Max Magnitude0
ClinVar
Risk rs397514478(T;T)
Alt rs397514478(T;T)
Reference rs397514478(C;C)
Significance Pathogenic
Disease Ataxia
Variation info
Gene RNF170
CLNDBN Ataxia, sensory, autosomal dominant
Reversed 1
HGVS NC_000008.10:g.42711484G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024296.2,