Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE The knockdown of SOCS3 increased the expression level of the JAK2 V617F mutant, which enhanced the activation of signaling mediators, including signal transducer and activator of transcription 3 and 5 (STAT3, STAT5) and extracellular signal-regulated kinase (ERK), and also increased of the proliferation rate and tumorigenesis activity of Ba/F3 cells expressing the JAK2 V617F mutant and erythropoietin receptor (EpoR). 31255914

2019

dbSNP: rs77375493
rs77375493
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE We herein elucidated the mechanism by which CIS functions as a novel type of tumor suppressor in JAK2 V617F mutant-induced tumorigenesis. 28038963

2017

dbSNP: rs77375493
rs77375493
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE Collectively, these results have revealed that phosphorylation of Tyr-343, Tyr-460, and Tyr-464 in EpoR underlies JAK2 V617F mutant-induced tumorigenesis. 27998978

2017

dbSNP: rs77375493
rs77375493
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation BEFREE The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somatic event in most patients with myeloproliferative neoplasms (MPNs), and the study of these chronic myeloid malignancies provides an experimentally tractable approach to understanding early tumorigenesis. 25288776

2014