Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease
G 0.700 GeneticVariation CLINVAR JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. 20585391 2010