Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909602
rs121909602
0.800 GeneticVariation UNIPROT Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 18499082

2008

dbSNP: rs121909602
rs121909602
A 0.800 CausalMutation CLINVAR

dbSNP: rs778740017
rs778740017
T 0.700 CausalMutation CLINVAR