Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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

2014

dbSNP: rs77375493
rs77375493
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 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