RNF170, ring finger protein 170, 81790

N. diseases: 11; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514478
rs397514478
Entrez Id: 81790
Gene Symbol: RNF170
RNF170
CUI: C1837015
Disease:
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. 21115467 2011
dbSNP: rs397514478
rs397514478
Entrez Id: 81790
Gene Symbol: RNF170
RNF170
CUI: C1837015
Disease:
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
A 0.800 CausalMutation CLINVAR
dbSNP: rs587780441
rs587780441
Entrez Id: 81790
Gene Symbol: RNF170
RNF170
CUI: C1837015
Disease:
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
C 0.700 GeneticVariation CLINVAR