Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159945
rs724159945
0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015

dbSNP: rs724159946
rs724159946
0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015

dbSNP: rs724159947
rs724159947
0.700 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015

dbSNP: rs267606706
rs267606706
CBL
0.700 GeneticVariation CLINVAR CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN. 23696637

2013

dbSNP: rs387906664
rs387906664
CBL
0.700 GeneticVariation CLINVAR CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN. 23696637

2013

dbSNP: rs1057519802
rs1057519802
0.700 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009

dbSNP: rs121913615
rs121913615
MPL
0.700 GeneticVariation CLINVAR MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 16834459

2007

dbSNP: rs121913506
rs121913506
KIT
0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913512
rs121913512
KIT
0.700 GeneticVariation CLINVAR STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. 11526490

2001

dbSNP: rs1057520014
rs1057520014
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913390
rs121913390
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913393
rs121913393
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs1801271
rs1801271
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs77375493
rs77375493
0.030 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
0.030 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: rs77375493
rs77375493
0.030 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: rs11540654
rs11540654
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015

dbSNP: rs11540654
rs11540654
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2013

dbSNP: rs767464424
rs767464424
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: rs777017502
rs777017502
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: rs13347
rs13347
0.010 GeneticVariation BEFREE In conclusion, our results indicate that among investigated single nucleotide polymorphisms (SNPs), only CD44 rs13347 has an impact on the efficacy of HSCs mobilization in patients with hematologic malignancies. 24680978

2015

dbSNP: rs25487
rs25487
0.010 GeneticVariation BEFREE The Arg399Gln polymorphism in the XRCC1 gene is associated with increased risk of hematological malignancies. 25619474

2015

dbSNP: rs1799782
rs1799782
0.010 GeneticVariation BEFREE Study on the association between the Arg194Trp polymorphism in the XRCC1 gene and the risk of hematological malignancies. 24414482

2014

dbSNP: rs25489
rs25489
0.010 GeneticVariation BEFREE The association between the Arg280His polymorphism in the XRCC1 gene and the risk of hematological malignancies. 24096581

2014

dbSNP: rs3921
rs3921
0.010 GeneticVariation BEFREE This study retrospectively examined the impact of a single nucleotide variation (rs3921, +1642C>G) in the CXCL10 gene on transplant outcomes in a cohort of 652 patients who underwent unrelated HLA-matched bone marrow transplantation (BMT) for hematologic malignancies. 23291247

2013