Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913521
rs121913521
KIT
0.020 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015

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: rs1360131632
rs1360131632
0.030 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: rs25487
rs25487
0.030 GeneticVariation BEFREE Collectively, the results of the present study suggest that XRCC1 Arg399Gln polymorphism might be a low-penetrant risk factor for leukemia, particularly among Asians. 23990457

2014

dbSNP: rs387906553
rs387906553
0.010 GeneticVariation BEFREE Collectively, these data suggest that expression of V72M NE is not sufficient to induce an SCN phenotype or leukemia in mice. 12384420

2002

dbSNP: rs3116496
rs3116496
0.010 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406

2019

dbSNP: rs121913502
rs121913502
0.020 GeneticVariation BEFREE Conditional deletion of IDH2/R140Q blocked 2-HG production and maintenance of leukemia stem cells, resulting in survival of the AML mice. 25795706

2015

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: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Dasatinib overrides the differentiation blockage in a patient with mutant-<i>KIT</i> D816V positive CBFβ-MYH11 leukemia. 29545943

2018

dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE Dasatinib overrides the differentiation blockage in a patient with mutant-<i>KIT</i> D816V positive CBFβ-MYH11 leukemia. 29545943

2018

dbSNP: rs1408538785
rs1408538785
0.010 GeneticVariation BEFREE Data from cord blood cells and leukemia cell lines suggest a role for DDX41 in preribosomal RNA processing, in which the expression of the p.R525H mutant causes a certain ribosomopathy phenotype in hematopoietic cells by suppressing MDM2-mediated RB degradation, thus triggering the inhibition of E2F activity. 27174803

2016

dbSNP: rs869312828
rs869312828
0.010 GeneticVariation BEFREE Data from cord blood cells and leukemia cell lines suggest a role for DDX41 in preribosomal RNA processing, in which the expression of the p.R525H mutant causes a certain ribosomopathy phenotype in hematopoietic cells by suppressing MDM2-mediated RB degradation, thus triggering the inhibition of E2F activity. 27174803

2016

dbSNP: rs1360698171
rs1360698171
0.010 GeneticVariation BEFREE Evaluation of xenotropic murine leukemia virus and its R426Q polymorphism in patients with prostate cancer in Kerman, southeast of Iran. 23098452

2012

dbSNP: rs1057519766
rs1057519766
0.010 GeneticVariation BEFREE Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia. 23878140

2013

dbSNP: rs869312953
rs869312953
0.010 GeneticVariation BEFREE Finally, we also showed in an in vivo leukemia model that cells expressing JAK1(A634D) are hypersensitive to the antiproliferative and antitumorigenic effect of type I IFN, suggesting that type I IFNs should be considered as a potential therapy for ALL with JAK1-activating mutations. 20167706

2010

dbSNP: rs1057519753
rs1057519753
0.010 GeneticVariation BEFREE Further analysis showed that JAK1 V658F cooperated in vivo with PML-RARA, causing a rapidly fatal leukemia in mice. 21436584

2011

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE Further studies showed no association between leukemia risk and p53 Arg72Pro polymorphism when stratified in subtypes of leukemias, ethnicities and sources of controls. 23029260

2012

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE Further studies showed no association between leukemia risk and p53 Arg72Pro polymorphism when stratified in subtypes of leukemias, ethnicities and sources of controls. 23029260

2012

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE Further studies showed no association between leukemia risk and p53 Arg72Pro polymorphism when stratified in subtypes of leukemias, ethnicities and sources of controls. 23029260

2012

dbSNP: rs121913514
rs121913514
KIT
0.030 GeneticVariation BEFREE Furthermore, dasatinib prolonged lifespan of mice bearing AE and HyC-KIT N822K-coexpressing leukemic cells and exerted synergic effects while combined with cytarabine, thus providing a potential therapeutic for t(8;21) leukemia. 21262832

2011

dbSNP: rs7090445
rs7090445
0.010 GeneticVariation BEFREE Genetic analyses revealed a novel heterozygous mutation in the ETS domain of <i>ETV6</i> (c.1136T>C, p.Leu379Pro) along with absence of heterozygosity of chromosome (10)(q21.2q21.3), yielding a biallelic leukaemia risk allele in <i>ARID5B</i> (rs7090445-C). 31704777

2019

dbSNP: rs17886724
rs17886724
0.010 GeneticVariation BEFREE Genotype analyses showed that two SNPs, namely rs17886724 and rs2293157 located in STAT3 and STAT5, respectively, were significantly associated with leukemia (p < 0.05 for all). 22126101

2012

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 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

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