Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE The expanding scope of creative impact is perhaps most startling-from NCI-funded built environments to AACR Team Science Awarded studies of Asian cancer genomes informing global primary prevention policies; cell-free epigenetic marks identifying incipient neoplastic site; practice-changing genomic subclasses in myeloproliferative neoplasia (including germline variant tightly linked to JAK2 V617F haplotype); universal germline genetic testing for pancreatic cancer; and repurposing drugs targeting immune- and stem-cell signals (e.g., IL-1β, PD-1, RANK-L) to cancer interception. 30530635

2018

dbSNP: rs77375493
rs77375493
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE In conclusion, in the general population the JAK2 V617F somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters. 23116358

2013

dbSNP: rs77375493
rs77375493
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE The JAK2 V617F somatic mutation, mortality and cancer risk in the general population. 21160067

2011

dbSNP: rs77375493
rs77375493
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML. 16598306

2006