Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
0.780 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924

2010

dbSNP: rs267606870
rs267606870
0.710 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924

2010

dbSNP: rs121913502
rs121913502
T 0.780 CausalMutation CLINVAR Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS). 20946881

2010

dbSNP: rs121913502
rs121913502
0.780 GeneticVariation BEFREE Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS). 20946881

2010

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881

2010

dbSNP: rs121913503
rs121913503
0.720 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881

2010

dbSNP: rs1042026735
rs1042026735
0.010 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881

2010

dbSNP: rs200758694
rs200758694
0.010 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881

2010

dbSNP: rs773159667
rs773159667
0.010 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881

2010

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR Evaluation of mutations in the isocitrate dehydrogenase genes in therapy-related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy. 21250968

2011

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. 21596855

2011

dbSNP: rs121913502
rs121913502
A 0.780 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913502
rs121913502
T 0.780 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913503
rs121913503
A 0.720 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs267606870
rs267606870
A 0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs1057519736
rs1057519736
G 0.700 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913502
rs121913502
T 0.780 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365

2012

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365

2012

dbSNP: rs121913502
rs121913502
A 0.780 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs121913503
rs121913503
A 0.720 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs121913503
rs121913503
T 0.720 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs267606870
rs267606870
A 0.710 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs1057519736
rs1057519736
G 0.700 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs121913502
rs121913502
0.780 GeneticVariation BEFREE IDH mutations occurred at a considerable frequency of 15.89% in Chinese AML cases; IDH2 R140Q was the most frequent genetic alteration and was associated with older age, normal karyotype, and French-American-British classification M2 at diagnosis. 22494415

2012