Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771578775
rs771578775
COQ8A
0.020 GeneticVariation BEFREE A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. 21873089

2012
dbSNP: rs771578775
rs771578775
COQ8A
0.020 GeneticVariation BEFREE We found no evidence of a Dutch founder for the c.1042C>T mutation in AR ataxia. 20580948

2010