Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs2032582
rs2032582
0.010 GeneticVariation BEFREE Our findings indicate that there is an effect of the 2677G>T/A polymorphism on progression-free survival in ovarian cancer patients who are treated with a taxane/carboplatin, which is dependent on the extent of residual disease, with a better prognosis for patients with the 2677T/A allele and minimal residual disease. 18765553

2008

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: rs201478192
rs201478192
0.010 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 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: rs1057519743
rs1057519743
0.010 GeneticVariation BEFREE As controversy exists regarding the prognostic significance of genomic rearrangements of CRLF2 in pediatric B-precursor acute lymphoblastic leukemia (ALL) classified as standard/intermediate-risk (SR) or high-risk (HR), we assessed the prognostic significance of CRLF2 mRNA expression, CRLF2 genomic lesions (IGH@-CRLF2, P2RY8-CRLF2, CRLF2 F232C), deletion/mutation in genes frequently associated with high CRLF2 expression (IKZF1, JAK, IL7R), and minimal residual disease (MRD) in 1061 pediatric ALL patients (499 HR and 562 SR) on COG Trials P9905/P9906. 22368272

2012

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: rs113488022
rs113488022
0.010 GeneticVariation BEFREE The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD. 23892906

2013

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD. 23892906

2013

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: 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: 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: rs1051266
rs1051266
0.010 GeneticVariation BEFREE Three variants were significantly associated with MRD: rs1544410 in VDR (MRD-day15); rs1051266 in RFC (MRD-day33, MRD-week12), independently and in an additive effect with rs10519613 in IL15 (MRD-day33). 27427275

2016

dbSNP: rs10519613
rs10519613
0.010 GeneticVariation BEFREE Three variants were significantly associated with MRD: rs1544410 in VDR (MRD-day15); rs1051266 in RFC (MRD-day33, MRD-week12), independently and in an additive effect with rs10519613 in IL15 (MRD-day33). 27427275

2016

dbSNP: rs1544410
rs1544410
VDR
0.010 GeneticVariation BEFREE Three variants were significantly associated with MRD: rs1544410 in VDR (MRD-day15); rs1051266 in RFC (MRD-day33, MRD-week12), independently and in an additive effect with rs10519613 in IL15 (MRD-day33). 27427275

2016

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: 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

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