Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. 19216843

2009

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies. 24404189

2014

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples. 23807288

2013

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloproliferative neoplasms, and of other pseudokinase domain-activating mutations in JAK2, JAK1 and JAK3 in blood cancers, prompted great interest in understanding how pseudokinase domains regulate kinase domains in JAKs. 23863177

2013

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015

dbSNP: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE MTHFR C677T polymorphism may be a good predictor for MTX toxicity in adult hematological malignancies. 27270164

2016

dbSNP: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis. 31188929

2019

dbSNP: rs387907272
rs387907272
0.020 GeneticVariation BEFREE However, the seminal discoveries of MYD88 (L265P) mutation, present in the vast majority (85-100 %), and CXCR4 (WHIM) mutations, identified in nearly a third of patients (who almost exclusively harbor the MYD88 (L265P) variant), have laid a solid foundation for a paradigm shift in our diagnostic and therapeutic approaches towards this rare hematologic malignancy. 26942591

2016

dbSNP: rs387907272
rs387907272
0.020 GeneticVariation BEFREE Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common germline susceptibility gene in SS, it might suggest a distinct operating pathogenetic mechanism in SS-related lymphoma compared with WM and other hematological malignancies. 24153350

2014

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012

dbSNP: rs104894226
rs104894226
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs1057519766
rs1057519766
0.010 GeneticVariation BEFREE Three out of 14 (21.4 %) C57BL/6J mice transplanted with FLT3-N676K-transduced primary hematopoietic progenitor cells developed acute leukemia (latency of 68, 77, and 273 days), while no hematological malignancy was observed in the control groups including FLT3-ITD. 26891877

2016

dbSNP: rs1057520009
rs1057520009
0.010 GeneticVariation BEFREE Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma. 28196522

2017

dbSNP: rs1114167651
rs1114167651
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs112445441
rs112445441
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs11536889
rs11536889
0.010 GeneticVariation BEFREE We retrospectively examined whether or not genetic variations in toll-like receptor 1 (rs5743551, -7202GQ>A), toll-like receptor 2 (rs7656411, 22215G>T), and toll-like receptor 4 (rs11536889, +3725G>C) affected transplant outcomes in a cohort of 365 patients who underwent unrelated HLA-matched bone marrow transplantation (for hematologic malignancies through the Japan Marrow Donor Program. 28484092

2017

dbSNP: rs121434596
rs121434596
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs121913507
rs121913507
KIT
0.010 GeneticVariation BEFREE The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation. 29643855

2018

dbSNP: rs121913682
rs121913682
KIT
0.010 GeneticVariation BEFREE The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation. 29643855

2018

dbSNP: rs121918453
rs121918453
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs121918454
rs121918454
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007