Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434278
rs121434278
ACADM
0.810 GeneticVariation UNIPROT Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. 2251268

1990
dbSNP: rs121434278
rs121434278
ACADM
0.810 GeneticVariation UNIPROT Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 2393404

1990
dbSNP: rs121434278
rs121434278
ACADM
0.810 GeneticVariation UNIPROT Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. 2394825

1990