Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515323
rs397515323
0.020 GeneticVariation BEFREE We have previously shown the R158H mutation confers PDK3 enzyme hyperactivity. 27388934

2016

dbSNP: rs397515323
rs397515323
0.020 GeneticVariation BEFREE We found that the R158H mutation confers enzyme hyperactivity and binds with stronger affinity than the wild-type to the inner-lipoyl (L2) domain of the E2p chain of PDC. 23297365

2013