Rs12343867

23andMe blog At rs12340895(G) (equivalent to rs12343867 in the study) had nearly four times higher odds of developing V617F-positive MPN compared to people without the disease. 23andMe recently replicated this association, though we see a smaller effect — in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. n A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version.

The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.


 * rs12343867
 * rs12340895
 * rs3780374
 * rs4495487
 * rs10974944

The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients.

The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study.

The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.

JAK2V617F mutation is associated with special alleles in essential thrombocythemia.

The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis.

Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.