Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2201862
rs2201862
0.020 GeneticVariation BEFREE Here we aimed to evaluate the association of five germline variations (<i>JAK2</i> 46/1 haplotype tagged by rs12343867, <i>JAK2</i> intron 8 rs12339666, <i>TERT</i> rs2736100, <i>HBS1L</i>-<i>MYB</i> rs9376092 and <i>MECOM</i> rs2201862) and the risk of MPNs in Taiwanese population. 29100304

2017

dbSNP: rs2201862
rs2201862
0.020 GeneticVariation BEFREE In conclusion, JAK2 46/1, TERT rs2736100 and MECOM rs2201862 are the chief predisposing polymorphisms to MPN. 29047144

2018

dbSNP: rs4858647
rs4858647
0.010 GeneticVariation BEFREE This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. 29047144

2018

dbSNP: rs1200469268
rs1200469268
0.010 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: rs796065343
rs796065343
0.010 GeneticVariation BEFREE Here we demonstrate that the most prevalent, activating mutation, CSF3R T618I, is sufficient to drive a lethal myeloproliferative disorder in a murine bone marrow transplantation model. 24081659

2013

dbSNP: rs562533120
rs562533120
0.010 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: rs1800562
rs1800562
0.010 GeneticVariation BEFREE We found that HFE C282Y might be associated with a protective role against CMPD. 19258483

2009

dbSNP: rs104894230
rs104894230
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414

2017

dbSNP: rs727503094
rs727503094
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414

2017

dbSNP: rs121913502
rs121913502
0.010 GeneticVariation BEFREE Three IDH2 R140Q mutations were found in 2/108 MPN (1.85%) and 1/22 MDS (4.54%) patients, while one IDH2 G145G allele was found in 0.92% (1/108) of MPN patients. 25486927

2015

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes. 21331593

2011

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also. 26189968

2015

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs. 22304488

2012

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence. 28609766

2017

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

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE JAK2(V617F) determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease. 18048969

2007

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations. 17854308

2007

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias. 16037387

2005

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity. 28008177

2017

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients. 22227528

2012

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs. 16537803

2006

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs. 16946305

2007

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE We report on clinical and molecular data in the largest cohort of JAK2 V617F mutant MPN Danish patients (n=102) being treated long-term with rIFN-alpha2 (rIFN-alpha2a and rIFN-alpha2b in a non-clinical trial setting.The median follow-up was 42 months. 23827351

2013

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder. 19693645

2012

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens. 25719551

2015