rs12340895

badMag 5.5

This is a intron variant variant in the JAK2 gene.

Key Literature Trait Associations

Myeloproliferative Neoplasm Susceptibility

The G allele tags the JAK2 46/1 (GGCC) haplotype, which confers a nearly four-fold increased risk of developing JAK2 V617F-positive myeloproliferative neoplasms (OR = 3.7, 95% CI 3.1-4.3). In a study of 311 MPN cases and population controls, the 46/1 haplotype was strongly overrepresented across all three MPN subtypes. The V617F somatic mutation preferentially arises on the 46/1 allele, suggesting this germline haplotype creates a permissive context for acquiring the oncogenic mutation.

Jones AV et al. “JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.” Nature Genetics 41(4):446-449 (2009)

Allele G

OR 3.70

p 2.9e-16

Large GWAS

Li SL et al. “The JAK2 46/1 haplotype (GGCC) in myeloproliferative neoplasms and splanchnic vein thrombosis: a pooled analysis of 26 observational studies.” Annals of Hematology (2014)

Allele G

OR 2.19

p 1.0e-10

N 15,995

Large GWAS

multi-ancestry

Koh SP et al. “Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.” Bmc Genetics (2014)

Allele G

OR 3.55

p 3.8e-15

N 642

Small GWAS

East Asian

Zhang X et al. “The JAK2 46/1 haplotype is a risk factor for myeloproliferative neoplasms in Chinese patients.” International Journal of Hematology (2012)

Allele G

OR —

p 4.8e-21

N 451

Small GWAS

East Asian

Hsiao HH et al. “JAK2V617F mutation is associated with special alleles in essential thrombocythemia.” Leukemia & Lymphoma (2011)

Allele G

OR —

p 5.0e-2

N 167

Candidate gene study

East Asian

“A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms”

Allele G

OR —

p —

Candidate gene study

European

Gene information from NCBI Gene. Variant classifications from ClinVar.

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