Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122972
rs398122972
CDK2AP1 ; C12orf65
0.010 GeneticVariation BEFREE Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. 25995486

2016