Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
IDH2
T 0.800 CausalMutation CLINVAR A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. 21889589

2011
dbSNP: rs121913502
rs121913502
IDH2
0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235

2010
dbSNP: rs121913502
rs121913502
IDH2
T 0.800 CausalMutation CLINVAR IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235

2010
dbSNP: rs267606870
rs267606870
IDH2
0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235

2010
dbSNP: rs121913502
rs121913502
IDH2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs267606870
rs267606870
IDH2
C 0.800 CausalMutation CLINVAR