Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis. 23970983

2013

dbSNP: rs121913614
rs121913614
MPL
0.710 GeneticVariation BEFREE The S505N mutation, associated with familial MPD, was detected in 3 patients. 21326037

2011

dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 18528423

2008

dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. 18451306

2008

dbSNP: rs121913504
rs121913504
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913520
rs121913520
KIT
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913504
rs121913504
A 0.700 GeneticVariation CLINVAR Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition. 22271575

2012

dbSNP: rs1057519752
rs1057519752
MPL
T 0.700 GeneticVariation CLINVAR Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms. 21228032

2011

dbSNP: rs121913504
rs121913504
A 0.700 GeneticVariation CLINVAR Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor. 20372971

2011

dbSNP: rs121913504
rs121913504
A 0.700 GeneticVariation CLINVAR CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms. 20385788

2010

dbSNP: rs121913520
rs121913520
KIT
A 0.700 GeneticVariation CLINVAR Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 19175693

2009

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R. 31778606

2020

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The majority (94%) of patients were positive for the JAK2 V617F mutation, whilst in 29% recurrent ICVEs (range two to three) were noted prior to MPN diagnosis. 30629793

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 30772299

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The majority of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) harbor a gain of function mutation V617F in Janus kinase (JAK) 2. 31227936

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. 31248375

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant. 31255914

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Consistent with this, treatment with a small molecule IRAK1/4 inhibitor rescued the aberrantly elevated IL-1β production in the JAK2-V617F MPN model. 31434702

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The JAK2 46/1 haplotype, but not the TERT rs2736100 SNP, was correlated to the JAK2 V617F mutant allele burden in JAK2 V617F-positive MPN patients. 31571131

2019

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). 31697804

2019

dbSNP: rs121913615
rs121913615
MPL
0.100 GeneticVariation BEFREE Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). 28990497

2018

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Erythroid staining for pSTAT5 was seen exclusively in "triple-negative (TN)" cases lacking JAK2 V617F, MPL, and CALR mutations (P=0.006, TN vs. other genotypes), and pSTAT5 staining in megakaryocyte nuclei was seen in 2 TN cases. pSTAT5 staining in TN MPN suggests that other unknown abnormalities in this pathway may contribute to the pathogenesis of these cases. 27258562

2018

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE We found the expression levels of p-JAK2, VEGF, HIF-1a and MVD in the newly diagnosed MPNs were significantly increased and were related to the JAK2 V617F burden. 28554272

2018

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01). 29047144

2018

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN). 29150911

2018