rs3780374

badMag 5.5

This is a intron variant variant in the JAK2 gene.

Key Literature Trait Associations

Myeloproliferative Neoplasm Susceptibility

The T allele at rs3780374 tags the JAK2 46/1 (GGCC) haplotype, which confers a roughly threefold increased predisposition to JAK2 V617F-positive myeloproliferative neoplasms. A GWAS of 2,584 MPN cases and 7,475 controls of European ancestry identified this locus with genome-wide significance (OR 3.10, P = 1.4 × 10⁻²⁹). The 46/1 haplotype is thought to create a permissive genetic background that preferentially acquires somatic JAK2 mutations.

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 T

OR 2.19

p 1.0e-10

N 15,995

Large GWAS

multi-ancestry

Bodemer C et al. “Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.” The Journal of Investigative Dermatology 130(3):804-815 (2010)

Allele T

OR 3.10

p 1.4e-29

Large GWAS

“Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms”

Allele T

OR 2.40

p 6.6e-89

N 253,363

Large GWAS

European

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 T

OR 3.70

p 2.9e-16

N 311

Small GWAS

European

Kilpivaara O et al. “A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.” Nature Genetics (2009)

Allele T

OR —

p —

Candidate gene study

European

“A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms”

Allele T

OR —

p —

Candidate gene study

European

Gene information from NCBI Gene. Variant classifications from ClinVar.

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