The Minor “G” allele is associated with:

  • 2X Increased risk of developing a myeloproliferative neoplasm (blood cancers) [R]

  • 2 - 4 fold increased odds of developing V617F-positive myelofibrosis (MPN)

  • More susceptible to a JAK2V617F mutation (GG) [R]

The Major “C” allele is associated with:

  • No increased risk for developing a myeloproliferative neoplasm [R]

  • 75% of the world’s population contain the normal allele “C” [R]

 

rs12340895

Parent Gene: JAK2

Importance: 3
Less common allele: G = 25%
More common allele: C = 75%
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