Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation. 29306106

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN. 29767839

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE Our findings support the possibility of coexisting JAK2 V617F and CALR mutations and stress the importance of further molecular screening in MPN patients with low allele frequencies of JAK2 V617F. 30292681

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE Recently, reports about Philadelphia and JAK2 V617F-positive MPN cases have been described in literature. 29508552

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE LY2784544 demonstrated efficacy in JAK2 V617F-mutated MPNs, including in patients previously on ruxolitinib therapy, who had an ORR of 3.3%. 30025280

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review. 29656438

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
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
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE Eight patients underwent the JAK2 V617F gene test when diagnosed with MPN. 30452397

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE Of the 51 patients diagnosed with MPN and a JAK-2 V617F mutation, 33 suffered from PV, 15 from ET and 3 from MF. 29492207

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE The activated JAK2-V617F mutant is very frequently found in myeloproliferative neoplasms (MPNs), and its inhibitor ruxolitinib has been in clinical use, albeit with limited efficacies. 29928488

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE Our experiments revealed high analytical sensitivity for both tests, suggesting that they are capable of detecting the JAK2 V617F mutation at diagnosis of MPN with a limit of detection (LoD) of 0.12% for qPCR and 0.01% for ddPCR. 30056580

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). 29717448

2018

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. 29214759

2018