Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 GeneticVariation CLINVAR Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. 27858754

2015
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 CausalMutation CLINVAR Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. 27858754

2015
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 GeneticVariation CLINVAR Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 24284555

2014
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 CausalMutation CLINVAR Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 24284555

2014
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 GeneticVariation CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281

2010
dbSNP: rs576462794
rs576462794
CDK2AP1 ; C12orf65
C 0.700 CausalMutation CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281

2010
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
G 0.700 CausalMutation CLINVAR

dbSNP: rs863223926
rs863223926
CDK2AP1 ; C12orf65
TATCC 0.700 CausalMutation CLINVAR