Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs974120
rs974120
0.010 GeneticVariation BEFREE The locus of rs974120 shows marks of transcriptional activity in leukemia according to ENCODE data. rs10251201 (7p21.3), rs9318227 (13q22.1), and rs10405859 (19q13.32) were associated with markers related to leukemogenesis and immune and inflammatory responses. 28375557

2017

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: rs174538
rs174538
0.010 GeneticVariation BEFREE However, it has not been revealed whether rs174538 and rs4246215 are associated with leukemia. 26708601

2016

dbSNP: rs1801157
rs1801157
0.010 GeneticVariation BEFREE This study aimed to determine the associations between the polymorphisms located on the SDF-1 (rs1801157, G>A) and CXCR4 (rs2228014, C>T) encoding genes and susceptibility and leukemia cell dissemination in AML. 27154815

2016

dbSNP: rs201045130
rs201045130
0.010 GeneticVariation BEFREE While investigating leukemia susceptibility genes, we discovered a very rare p.L254P NT5C1A missense variant in the substrate recognition motif. 26906009

2016

dbSNP: rs2228014
rs2228014
0.010 GeneticVariation BEFREE This study aimed to determine the associations between the polymorphisms located on the SDF-1 (rs1801157, G>A) and CXCR4 (rs2228014, C>T) encoding genes and susceptibility and leukemia cell dissemination in AML. 27154815

2016

dbSNP: rs3184504
rs3184504
0.010 GeneticVariation BEFREE LNK (R262W) is a loss-of-function variant that promotes thrombopoietin/myeloproliferative leukemia virus oncogene signaling and platelet and leukocyte production. 27430239

2016

dbSNP: rs4246215
rs4246215
0.010 GeneticVariation BEFREE However, it has not been revealed whether rs174538 and rs4246215 are associated with leukemia. 26708601

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: rs121913452
rs121913452
0.010 GeneticVariation BEFREE Patients with Philadelphia-positive leukemia with Y253H or F359V mutation have a high risk of developing new mutations in the setting of dasatinib resistance. 25379619

2015

dbSNP: rs121913461
rs121913461
0.010 GeneticVariation BEFREE We conclude that patients with Ph+ leukemia with Y253H or F359V mutation have a high likelihood of developing new mutations in the setting of dasatinib resistance. 25379619

2015

dbSNP: rs13181
rs13181
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495

2015

dbSNP: rs138213197
rs138213197
0.010 GeneticVariation BEFREE Our study confirms the association between the HOXB13 G84E variant and prostate cancer and suggests a novel association between G84E and leukemia and a suggestive association with bladder cancer. 26108461

2015

dbSNP: rs17655
rs17655
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495

2015

dbSNP: rs2228001
rs2228001
XPC
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495

2015

dbSNP: rs3822214
rs3822214
KIT
0.010 GeneticVariation BEFREE Other genetic changes were found in 15 of 57 samples with AML: polymorphisms Met541Leu in 14% of cases, Lys546Lys in 7% and 1 case of acute biclonal leukemia, Ile798Ile in 5.3% of cases, Met541Leu in 1 acute biphenotypic leukemia and in 6.3% of ALL. 25247397

2015

dbSNP: rs387906666
rs387906666
CBL
0.010 GeneticVariation BEFREE The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia. 25939664

2015

dbSNP: rs387907272
rs387907272
0.010 GeneticVariation BEFREE Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Leukemia. 26230596

2015

dbSNP: rs104894230
rs104894230
0.010 GeneticVariation BEFREE We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein. 24480914

2014

dbSNP: rs10931910
rs10931910
0.010 GeneticVariation BEFREE We found a significant decrease in clearance (τ=-0.32, P=0.003) in solid tumor patients with rs10931910, although it failed to replicate in the leukemia cohort (τ=0.18, P=0.20). 24300566

2014

dbSNP: rs121913227
rs121913227
0.010 GeneticVariation BEFREE In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated progression of a previously unrecognized NRAS-mutant leukemia. 24589925

2014

dbSNP: rs121913237
rs121913237
0.010 GeneticVariation BEFREE In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which harbor leukemia stem cells, were preferentially sensitive to NRAS(G12V) withdrawal. 25316678

2014

dbSNP: rs1482518887
rs1482518887
0.010 GeneticVariation BEFREE We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein. 24480914

2014

dbSNP: rs1801394
rs1801394
0.010 GeneticVariation BEFREE This meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Caucasian population and in children, especially for ALL. 24261678

2014

dbSNP: rs1979277
rs1979277
0.010 GeneticVariation BEFREE In summary, the findings suggest that SHMT1 C1420T polymorphism is not associated with overall cancer development, but might decrease cancer susceptibility of Asians as well as reduce leukemia risk. 24716966

2014