Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913448
rs121913448
0.010 GeneticVariation BEFREE The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I. 15194504

2004

dbSNP: rs1416364034
rs1416364034
0.010 GeneticVariation BEFREE The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I. 15194504

2004

dbSNP: rs387906517
rs387906517
0.010 GeneticVariation BEFREE The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I. 15194504

2004

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE More importantly, ON012380 was found to induce apoptosis of all of the known imatinib-resistant mutants at concentrations of <10 nM concentration in vitro and cause regression of leukemias induced by i.v. injection of 32Dcl3 cells expressing the imatinib-resistant BCR-ABL isoform T315I.Daily i.v. dosing for up to 3 weeks with a >100 mg/kg concentration of this agent is well tolerated in rodents, without any hematotoxicity. 15677719

2005

dbSNP: rs1800562
rs1800562
0.030 GeneticVariation BEFREE Interactions of HFE with environmental and genetic factors, most of which are recognized, may play a role in modification of susceptibility to leu</span>kemia conferred by C282Y. 15775751

2005

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

2006

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: rs1800562
rs1800562
0.030 GeneticVariation BEFREE HFE-codon 63/282 (H63D/C282Y) gene variants in Mexican Mestizos are not risk factors for leukemia. 16314188

2006

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE Our investigation provides interesting data concerning the opposite effect of A1298C polymorphisms, particularly in the light of relatively scarce data regarding the MTHFR role in leukemia susceptibility in different populations. 16182363

2006

dbSNP: rs1799945
rs1799945
0.010 GeneticVariation BEFREE HFE-codon 63/282 (H63D/C282Y) gene variants in Mexican Mestizos are not risk factors for leukemia. 16314188

2006

dbSNP: rs35602083
rs35602083
0.010 GeneticVariation BEFREE Our data suggest that the FLT3 D324N variant might be associated with a predisposition to different subtypes of leukemia. 16320249

2006

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: 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: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In attempting to establish a murine model of human KIT(D816V) (hKIT(D816V))-mediated leukemia, we uncovered an unexpected relationship between cellular transformation and intracellular trafficking. 17060458

2007

dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE In attempting to establish a murine model of human KIT(D816V) (hKIT(D816V))-mediated leukemia, we uncovered an unexpected relationship between cellular transformation and intracellular trafficking. 17060458

2007

dbSNP: rs387906659
rs387906659
0.020 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: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008

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: 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: rs61754966
rs61754966
NBN
0.030 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567

2008

dbSNP: rs61754966
rs61754966
NBN
0.030 GeneticVariation BEFREE Positive associations have also been reported for leukaemia and larynx cancer suggesting that I171V could be a more general susceptibility factor for malignancies. 18049891

2008

dbSNP: rs387906659
rs387906659
0.020 GeneticVariation BEFREE The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. 18665177

2008

dbSNP: rs10065633
rs10065633
0.010 GeneticVariation BEFREE All three htSNPs showed correlation with blood infection levels in malaria patients, and the rs10065633 polymorphism was associated with severe disease (P=0.02). 18200030

2008

dbSNP: rs121913488
rs121913488
0.010 GeneticVariation BEFREE The antileukemic activity of sorafenib was investigated in isogenic murine Ba/F3 AML cell lines that expressed mutant (ITD, D835G, and D835Y) or wild-type human FLT3, in primary human AML cells, and in a mouse leukemia xenograft model. 18230792

2008