Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114619974
rs114619974
0.700 GeneticVariation UNIPROT

dbSNP: rs116519313
rs116519313
0.700 GeneticVariation UNIPROT

dbSNP: rs1283441077
rs1283441077
0.700 GeneticVariation UNIPROT

dbSNP: rs1316795626
rs1316795626
0.700 GeneticVariation UNIPROT

dbSNP: rs1406914931
rs1406914931
0.700 GeneticVariation UNIPROT

dbSNP: rs147001633
rs147001633
0.700 GeneticVariation UNIPROT

dbSNP: rs1554481435
rs1554481435
0.700 GeneticVariation UNIPROT

dbSNP: rs376570662
rs376570662
0.700 GeneticVariation UNIPROT

dbSNP: rs377577594
rs377577594
0.700 GeneticVariation UNIPROT

dbSNP: rs532738858
rs532738858
0.700 GeneticVariation UNIPROT

dbSNP: rs569067880
rs569067880
0.700 GeneticVariation UNIPROT

dbSNP: rs749210253
rs749210253
0.700 GeneticVariation UNIPROT

dbSNP: rs754215085
rs754215085
0.700 GeneticVariation UNIPROT

dbSNP: rs761064473
rs761064473
0.700 GeneticVariation UNIPROT

dbSNP: rs771761785
rs771761785
0.700 GeneticVariation UNIPROT

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis. 30447300

2019

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE In summary, unlike typical CMML, CMML-F is commonly associated with JAK2 p.V617F. 29596070

2018

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia. 21658659

2011

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE Moreover, one of the progressed patients harbored the FLT3-ITD and two MP-CMML patients presented with the JAK2 V617F substitution. 20371679

2010

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML. 19734476

2009

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). 16537803

2006

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. 17050076

2006

dbSNP: rs77375493
rs77375493
0.080 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661

2005

dbSNP: rs1057519710
rs1057519710
KIT
0.010 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377

2017

dbSNP: rs121913506
rs121913506
KIT
0.010 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377

2017