Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE For JAK2 V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment. 26596525

2016

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study. 23860450

2013

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE QuanTAS-PCR is a simple, cost-efficient, closed-tube method for JAK2 V617F mutation quantification that can detect very low levels of the mutant allele, thus enabling analysis of minimal residual disease. 23617802

2013

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE The assay characteristics and our initial evaluation indicate this method can be used for the detection and quantification of JAK2 V617F, which should be useful for diagnosis of myeloproliferative neoplasms and potentially for monitoring minimal residual disease in future trials of therapies targeted to myeloproliferative neoplasms. 19959796

2010

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE The combination of ARMS-PCR and capillary electrophoresis enables quantitative assay of JAK2 V617F mutation, which helps in chronic MPD diagnosis and estimation of minimal residual disease. 19215672

2009

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE In conclusion, allogeneic stem cell transplantation after dose-reduced conditioning induces high rates of molecular remission in JAK2-positive patients with myelofibrosis, and quantification of V617F-JAK2 mutation by real-time PCR allows the detection of minimal residual disease to guide adoptive immunotherapy. 17018857

2007

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE Although an amplification refractory mutation system (ARMS) was shown to be slightly superior in terms of sensitivity, our real-time PCR method provides the potential for quantification of the JAK2 V617F mutation, having potential future applications in the monitoring of minimal residual disease or predicting outcome of disease severity. 17251334

2007

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation. 17565328

2007

dbSNP: rs147001633
rs147001633
0.030 GeneticVariation BEFREE In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S). 30457973

2019

dbSNP: rs147001633
rs147001633
0.030 GeneticVariation BEFREE We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A<sup>mut</sup>). 28643785

2018

dbSNP: rs147001633
rs147001633
0.030 GeneticVariation BEFREE We identified 24 DNMT3A R882H mutated patients out of 134 acute myeloid leukemia screened samples and we analyzed in these patients the kinetics of minimal residual disease after induction and consolidation therapy. 25554589

2015

dbSNP: rs1057520009
rs1057520009
0.020 GeneticVariation BEFREE Therefore, it was proposed that the XPO1 E571K variant may serve as a minimal residual disease tool in this setting. 28196522

2017

dbSNP: rs1057520009
rs1057520009
0.020 GeneticVariation BEFREE To conclude, the detection of the XPO1 E571K mutation in biopsy and plasma cell-free DNA by digital PCR may be used as a novel biomarker in classical Hodgkin lymphoma for both diagnosis and minimal residual disease, and pinpoints a crucial role of XPO1 in classical Hodgkin lymphoma pathogenesis. 27479820

2016

dbSNP: rs17069665
rs17069665
0.010 GeneticVariation BEFREE Further analyses were performed to explore associations of rs17069665 and rs9400241 with ALL susceptibility in terms of age, gender, immunophenotype, minimal residual disease (MRD), and other clinical characteristics. 31691337

2020

dbSNP: rs9400241
rs9400241
0.010 GeneticVariation BEFREE As for rs9400241, the effects were more predominant in children < 10 years, and in patients with pre B ALL, positive MRD, anemia, or hepatomegaly. 31691337

2020

dbSNP: rs104894229
rs104894229
0.010 GeneticVariation BEFREE In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S). 30457973

2019

dbSNP: rs121913500
rs121913500
0.010 GeneticVariation BEFREE In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S). 30457973

2019

dbSNP: rs121913530
rs121913530
0.010 GeneticVariation BEFREE In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S). 30457973

2019

dbSNP: rs377577594
rs377577594
0.010 GeneticVariation BEFREE We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A<sup>mut</sup>). 28643785

2018

dbSNP: rs387907272
rs387907272
0.010 GeneticVariation BEFREE These observations suggest that ddPCR can sensitively detect the MYD88 L265P mutation in cell-free DNA and could be used as non-invasive diagnostics, but may not be applicable for monitoring minimal residual diseases in PCNSL. 29151258

2018

dbSNP: rs1077858
rs1077858
0.010 GeneticVariation BEFREE SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03). 28389510

2017

dbSNP: rs12422149
rs12422149
0.010 GeneticVariation BEFREE SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03). 28389510

2017

dbSNP: rs1789693
rs1789693
0.010 GeneticVariation BEFREE SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03). 28389510

2017

dbSNP: rs2838958
rs2838958
0.010 GeneticVariation BEFREE Multiple Cox regression analyses revealed associations of minimal residual disease (MRD) at day 33 (hazard ratio 3.458; P = 0.002), MRD at day 78 (hazard ratio 6.330; P = 0.001), SLCO1B1 rs4149056 (hazard ratio 12.242; P < 0.001), and SCL19A1 rs2838958 (hazard ratio 2.324; P = 0.019) with EFS. 28525903

2017

dbSNP: rs4149056
rs4149056
0.010 GeneticVariation BEFREE Multiple Cox regression analyses revealed associations of minimal residual disease (MRD) at day 33 (hazard ratio 3.458; P = 0.002), MRD at day 78 (hazard ratio 6.330; P = 0.001), SLCO1B1 rs4149056 (hazard ratio 12.242; P < 0.001), and SCL19A1 rs2838958 (hazard ratio 2.324; P = 0.019) with EFS. 28525903

2017