Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Myelofibrosis due to another disorder
0.040 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

dbSNP: rs77375493
rs77375493
Myelofibrosis due to another disorder
0.040 GeneticVariation BEFREE We found that the following were distinctive features of myelofibrosis with myeloid metaplasia but not of secondary myelofibrosis due to PH: high circulating CD34 cell count, the presence of clonal platelets and granulocytes and of peripheral-blood dacrocytes, and a JAK2 1849G>T (V617F) mutation. 16418333

2006

dbSNP: rs77375493
rs77375493
Myelofibrosis due to another disorder
0.040 GeneticVariation BEFREE The clinical and pathological data on JAK2 V617F-positive MPD patients suggest that the JAK2 V617F mutation defines one disease entity with several sequential steps of ET, PV, and secondary myelofibrosis during long-term follow-up, and that the wild-type JAK2 MPDs may represent another distinct entity with a related but different molecular etiology. 16810609

2006

dbSNP: rs77375493
rs77375493
Myelofibrosis due to another disorder
0.040 GeneticVariation BEFREE In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but results in severe PV-like disease with secondary myelofibrosis and not in ET-like disease as expected from patient study. 20472827

2010