Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
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
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
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
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