Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs77375493
rs77375493
0.100 GeneticVariation BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103

2009

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). 21326037

2011

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: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wild-type counterparts with regard to JAK2 V617F status, exposure to chemotherapy or evolution to leukemia. 21712540

2011

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The incidence of JAK2 V617F in patients with a core binding factor (CBF) leukemia was 3.6% (p<0.01). 17229652

2007

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 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: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Homozygous V617F mutation is associated with the clinical picture of classic PV and with a higher tendency to secondary myelofibrosis, but with no increased leukemia unless other biological or genetic factors come into play, such as myelosuppressive agents or the acquisition of additional biologic or genetic defects. 16810614

2006

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: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemia. 17395259

2008

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T genetic polymorphisms and risk of leukaemia among the North Indian population. 22441130

2012

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE In contrast, associations for A1298C homozygotes (CC; OR = 0.26 with a 95% CI of 0.07--0.81) and C677T homozygotes (TT; OR = 0.49 with a 95% CI of 0.20--1.17) were observed for hyperdiploid leukemias (n = 138). 11274424

2001

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE Our results suggest that the MTHFR C677T polymorphism displays a similar distribution pattern in lymphoid and myeloid leukemias and that the frequency of the homozygote variant genotype (677TT) is lower in all leukemia types. 15068389

2003

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate. 12453860

2002

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE Recipient MTHFR polymorphisms (C677T) were associated with acute GvHD (P=0.03), and recipient VDR TaqI with TRM and overall survival (P=0.006 and P=0.04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. 19005482

2009

dbSNP: rs1217691063
rs1217691063
0.070 GeneticVariation BEFREE We investigated the risks of adult leukemia with genetic polymorphisms of folate metabolic enzymes (MTHFR C677T, A1298C, and TS) and evaluated if the associations varied by dietary folate intake from a multicenter case-control study conducted in Chinese. 26438060

2016

dbSNP: rs121434592
rs121434592
0.050 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266

2010

dbSNP: rs121434592
rs121434592
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly, may be therapeutically exploited to target the PI3K pathway. 19461960

2009

dbSNP: rs121434592
rs121434592
0.050 GeneticVariation BEFREE The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. 18665177

2008

dbSNP: rs121434592
rs121434592
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation and induces leukaemia in mice. 18504432

2008

dbSNP: rs121434592
rs121434592
0.050 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701

2007

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE Alternative BRAF mutations in BRAF V600E-negative hairy cell leukaemias. 24433452

2014

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status. 23349307

2013