Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519802
rs1057519802
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 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: rs1057520014
rs1057520014
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		A 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs121913390
rs121913390
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs121913393
rs121913393
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs121913506
rs121913506
KIT
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913506
rs121913506
KIT
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		T 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913512
rs121913512
KIT
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		G 0.700 GeneticVariation CLINVAR STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. 11526490

2001
dbSNP: rs121913615
rs121913615
MPL
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		T 0.700 GeneticVariation CLINVAR MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 16834459

2006
dbSNP: rs1801271
rs1801271
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs1801271
rs1801271
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		A 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs267606706
rs267606706
CBL
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 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: rs724159945
rs724159945
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		T 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs724159946
rs724159946
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		A 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs724159947
rs724159947
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		T 0.700 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		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
JAK2 ; INSL6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		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
JAK2 ; INSL6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		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: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		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: rs1042522
rs1042522
TP53
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012
dbSNP: rs1131691014
rs1131691014
TP53
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1131691014
rs1131691014
TP53
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		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: rs1217691063
rs1217691063
MTHFR
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE MTHFR C677T polymorphism may be a good predictor for MTX toxicity in adult hematological malignancies. 27270164

2016