Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764427452
rs764427452
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
CUI: C3554168
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		T 0.700 GeneticVariation CLINVAR Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. 24161539 2014
dbSNP: rs764427452
rs764427452
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
CUI: C3554168
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		T 0.700 CausalMutation CLINVAR