rs77375493, INSL6;JAK2

N. diseases: 187
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blast Phase
CUI: C0005699
Disease: Blast Phase
0.010 GeneticVariation BEFREE This finding suggests that the previously described increase of expression and kinase activity of JAK2 in CML cells does not result from the JAK2 V617F activation mutation and that transformation into blast crisis is not associated with the occurrence of this mutation. 16442619 2006