Source: ALL
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: rs947141826
rs947141826
0.010 GeneticVariation BEFREE Up-regulation of small GTP-binding proteins smg P21A and ras P21S during TPA-induced differentiation of human leukemia cell lines. 8429689

1993

dbSNP: rs9318227
rs9318227
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: rs927698341
rs927698341
0.010 GeneticVariation BEFREE T allele of CYP2B6 516G>T SNP may be one of the risk factors predisposing to the pathogenesis of a majority of ALL and AML, but has no relationship with B-ALL and leukemia with or without chromosome abnormalities. 20878158

2011

dbSNP: rs923941004
rs923941004
0.010 GeneticVariation BEFREE Transduction of murine hematopoietic cells with JAK3(V674A) led homogenously to lymphoblastic leukemias in BALB/c mice. 26446793

2015

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE In conclusion, the results suggest that there is no association between TP53 Arg72Pro polymorphism and the risk of leukemia, but the CC genotype may increase the risk of ALL TP53 Arg72Pro polymorphism CC genotype may increase the risk of ALL but is not associated with AML. 27053289

2016

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: 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: 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: rs861539
rs861539
0.020 GeneticVariation BEFREE In subgroup analysis according to ethnicity, a significant association was found between XRCC3 Thr241Met</span> (rs86</span>1539) polymorphism and leukemia risk in Asian but not in Caucasian or mixed populations. 24304418

2014

dbSNP: rs861539
rs861539
0.020 GeneticVariation BEFREE The pooled OR showed that there was no statistically significant association between XRCC3 Thr241Met polymorphism and leukemia risk in overall including studies, while a risky association was observed for acute myeloid leukemia (AML) (dominant model TT/TC vs. CC: OR = 1.240, 95% CI = 1.018-1.511, P = 0.032). 24197983

2014

dbSNP: rs854560
rs854560
0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839

2012

dbSNP: rs796065343
rs796065343
0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386

2018

dbSNP: rs780634396
rs780634396
0.010 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266

2010

dbSNP: rs778036161
rs778036161
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: rs775144154
rs775144154
0.010 GeneticVariation BEFREE The allelic frequencies of G/A80 were nearly identical for the non-leukemia (42.2% CGC and 57.8% CAC) and leukemia (40.7% CGC and 59.3% CAC) genomic DNAs. 11705857

2001

dbSNP: rs774164690
rs774164690
0.010 GeneticVariation BEFREE Some emerging aurora kinase inhibitors, such as VX-680, PHA-739358, MK-0457 and AS703569, and Smo1 and Hedgehog (Hh) inhibitors promise clinical efficacy against the Bcr-Ab T315I mutant form and leukaemia stem cells, respectively. 19959093

2009

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