Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE MPLW515K or W515L mutation plays an important role in the pathogenesis of myeloproliferative neoplasms (MPNs) through signaling molecules of the cytokine receptor axis. 31294534

2019

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365

2017

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation. 25453399

2015

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms. 24729973

2014

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs). 19996410

2010

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. 19643476

2010

dbSNP: rs121913615
rs121913615
MPL
0.070 GeneticVariation BEFREE As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). 18464114

2008

dbSNP: rs121913616
rs121913616
MPL
0.020 GeneticVariation BEFREE The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis. 28819248

2017

dbSNP: rs121913616
rs121913616
MPL
0.020 GeneticVariation BEFREE The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). 19194467

2009

dbSNP: rs1476891431
rs1476891431
MPL
0.010 GeneticVariation BEFREE To analyze the relationship between six polymorphisms in genes related to oxidative stress, namely CAT-262 C>T, MnSOD Ala16Val, GPX1 Pro198Leu, GSTM1 and GSTT1 null genotypes, and GSTP1 Ile105Val, and the occurrence of BCR-ABL negative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, and primary myelofibrosis). 27077777

2016