|(C;G)||2.5||Increased odds (2 - 4 fold?) of V617F-associated MPNs|
|(G;G)||3||2 - 4 fold increased odds of V617F-associated MPNs|
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.
[PMID 19287384] A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
[PMID 20422415] The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
[PMID 22251709] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
[PMID 20016140] Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2(V617F).
[PMID 21173100] The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.
[PMID 21281225] JAK2V617F mutation is associated with special alleles in essential thrombocythemia.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23420150] Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
[PMID 23845539] The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis
[PMID 23116358] Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population.
[PMID 23430670] JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.