Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009

dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008

dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs104894421
rs104894421
0.700 GeneticVariation UNIPROT

dbSNP: rs121434629
rs121434629
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913250
rs121913250
0.700 GeneticVariation UNIPROT

dbSNP: rs61753793
rs61753793
0.700 GeneticVariation UNIPROT

dbSNP: rs6413463
rs6413463
0.700 GeneticVariation UNIPROT

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Collectively, the present results suggest that in the treatment of leukemia, taxodione has potential as a compound with high efficacy to overcome BCR-ABL T315I mutation-mediated resistance in leukemia cells. 29859988

2018

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE T315I mutation of BCR-ABL1 into human Philadelphia chromosome-positive leukemia cell lines by homologous recombination using the CRISPR/Cas9 system. 29967475

2018

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Antitumor Effects of Blocking Protein Neddylation in T315I-BCR-ABL Leukemia Cells and Leukemia Stem Cells. 29321163

2018

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Ponatinib-Induced Graft-versus-Host Disease/Graft-versus-Leukemia Effect in a Patient with Philadelphia-Positive Acute Lymphoblastic Leukemia without the T315I Mutation Relapsing after Allogeneic Transplant. 28810255

2017

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase. 28068330

2017

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Leukaemia</span> arising in a JAK2 V617F</span>-negative clone is TP53 independent and shows better survival. 28542718

2017

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE In particular, gain-of-function mutations in the <i>JAK</i> genes, most frequently, V617F in the pseudokinase domain of JAK2, have been mapped in patients with blood disorders, including myeloproliferative neoplasms and leukemias. 29379470

2017

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Surprisingly, inhibition of AurA by AKI603 induced leukemia cell senescence in both BCR-ABL wild type and T315I mutation cells. 27824120

2016

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE In BCR/ABL- or BCR/ABL-T315I-driven murine leukemia as well as in xenograft models of primary Ph+ leukemia harboring the T315I, PF-114 significantly prolonged survival to a similar extent as ponatinib. 25394714

2015

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo with structural analysis to establish the VEGFR tyrosine kinase inhibitor axitinib as a selective and effective inhibitor for T315I-mutant BCR-ABL1-driven leukaemia. 25686603

2015

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL1 single mutants in Philadelphia chromosome-positive (Ph(+)) leukemia, including the recalcitrant BCR-ABL1(T315I) mutant. 25132497

2014

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. 25479752

2014

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE MK-0457 has important activity in patients with leukemias expressing the highly resistant T315I BCR-ABL mutation. 22772060

2013

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE One mutation, T315I, for example, renders the leukemia resistant to all first- and second-line TKIs. 23666688

2013

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis among different MPNs, disease progression and leukaemia transformation will lead to a better understanding of the development of these disorders, their clinical manifestations, and their treatment. 23432162

2013

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Given the fact that all AKIs fail to inhibit BCR/ABL harboring the 'gatekeeper' mutation T315I, we investigated the effects of AKIs in combination with the allosteric inhibitor GNF2 in Ph + leukemia. 22985168

2012

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutated leukemias. 21926354

2011