Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.040 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: rs121913682
rs121913682
KIT
0.040 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 T315I mutation of BCR-ABL1 into human Philadelphia chromosome-positive leukemia cell lines by homologous recombination using the CRISPR/Cas9 system. 29967475

2018

dbSNP: rs121913514
rs121913514
KIT
0.030 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543

2019

dbSNP: rs61754966
rs61754966
NBN
0.020 GeneticVariation BEFREE Additionally we confirmed the higher incidence of the p.I171V mutation in the leukemia group (7/220) than among controls (12/2400) (p<0.0001). 24093751

2013

dbSNP: rs138817062
rs138817062
PML
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814

2019

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Although many imatinib-resistant mutations respond well to second-generation TKIs, the threonine-to-isoleucine mutation at codon 315 of the breakpoint cluster region/v-abl Abelson murine leukemia viral oncogene protein fusion Bcr-Abl (T315I) is insensitive to all currently available TKIs. 20564073

2010

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Although strategies to overcome resistance-mediated T315I mutation may improve the survival of BCR-ABL-positive leukemia patients, there is little information on cell-based studies. 20471447

2010

dbSNP: rs77375493
rs77375493
0.060 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: rs2736098
rs2736098
0.010 GeneticVariation BEFREE Among the probands, a significantly increased frequency of leukemia was found in the carriers of SNP rs2736098 (5p15, P = .03) and melanoma in the carriers of either SNP rs1512268 (8p21, P = .006) or SNP rs5759167 (22q13, P = .02). 21820706

2011

dbSNP: rs61754966
rs61754966
NBN
0.020 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: 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: 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
0.020 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: 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