Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.780 GeneticVariation BEFREE Genome-wide co-expression network analysis identified several IDH2 R140Q</span> co</span>-expressed genes, of which</span> 56 were significantly associated with AML OS. 30896832

2019

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.780 GeneticVariation BEFREE Using the IDH2 R140Q mutation as a model, we present a new effective methodology here using the RNA-guided clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system to reproduce or remove AML-associated mutations in or from human leukemic cells, respectively, via introduction of a DNA template at the endogenous gene locus via homologous recombination. 28325290

2017

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.780 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.780 GeneticVariation BEFREE To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients. 25795706

2015

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.780 GeneticVariation BEFREE Of 230 samples from patients with AML 30 (13%) samples had DNMT3A mutations, 16 (7%) samples had IDH2 R140Q mutations and 36 (16%) samples had IDH1 mutations. 24887327

2014

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation. 23815907

2013

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 23949315

2013

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.780 GeneticVariation BEFREE Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 23949315

2013

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation. 23558173

2013

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.780 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.780 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.780 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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: rs121913502
rs121913502
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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