Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 GeneticVariation UNIPROT Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660

2005
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004