Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
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
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
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
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
0.780 GeneticVariation BEFREE Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 23949315

2013

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

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: 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: rs121913503
rs121913503
0.720 GeneticVariation BEFREE Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 23949315

2013

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: 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: rs118101777
rs118101777
0.020 GeneticVariation BEFREE All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity. 29635257

2018

dbSNP: rs118101777
rs118101777
0.020 GeneticVariation BEFREE Here we performed a large-scale RNA interference (RNAi) screen to identify genes that are synthetic lethal to the IDH1(R132H) mutation in AML and identified the anti-apoptotic gene BCL-2. 25599133

2015

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