Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907061
rs387907061
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.800 GeneticVariation UNIPROT Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs387907061
rs387907061
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		C 0.800 CausalMutation CLINVAR