Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200924
rs786200924
ACO2
0.800 GeneticVariation UNIPROT Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951

2014
dbSNP: rs786200924
rs786200924
ACO2
0.800 GeneticVariation UNIPROT Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087

2012
dbSNP: rs786200924
rs786200924
ACO2
G 0.800 CausalMutation CLINVAR