rs10974944

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This is a intron variant variant in the JAK2 gene.

Key Literature Trait Associations

Myeloproliferative Neoplasm Susceptibility

The G allele at rs10974944 tags the JAK2 46/1 haplotype, which preferentially acquires the somatic JAK2 V617F mutation and confers a ~3-fold increased risk of myeloproliferative neoplasms. In a GWAS of 2,636 MPN cases and 14,146 controls, this haplotype was strongly associated with polycythemia vera, essential thrombocythemia, and primary myelofibrosis (Jones et al., 2009).

Sukarawan W et al. “WNT5A expression in ameloblastoma and its roles in regulating enamel epithelium tumorigenic behaviors.” The American Journal of Pathology 176(1):461-471 (2010)

Allele G

OR 3.10

p 3.0e-13

Large GWAS

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 G

OR —

p —

Candidate gene study

European

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

Allele G

OR 2.40

p 6.6e-89

N 978,363

Large GWAS

multi-ancestry

“JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker”

Allele G

OR 3.03

p 1.0e-4

N 454

Candidate gene study

East/Southeast Asian (Vietnamese)

Adrian P. Trifa et al. “The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms” Annals of Hematology (2010)

Allele G

OR —

p 1.0e-4

N 299

Candidate gene study

European (Romanian)

“A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms”

Allele G

OR —

p —

Candidate gene study

European

Paes JF et al. “Exploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients.” Scientific Reports (2024)

Allele G

OR 3.40

p 1.0e-4

Candidate gene study

South American (Brazilian Amazon)

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Research that mentions this SNP (1)

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The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms

AssociationN=299Adrian P. Trifa et al.(2010)· Annals of Hematology

This case-control study of 149 myeloproliferative neoplasm (MPN) patients and 150 controls demonstrates that the G allele of JAK2 rs10974944 (part of the JAK2 46/1 haplotype) is strongly associated with JAK2 V617F-positive MPN (p<0.0001, OR=5.2 for GG/CG vs CC). The association is specific to V617F-positive cases and correlates with higher mutant allele burden (>50% vs <50%, p=0.0006, OR=6.1).

Traits studied:Essential thrombocythemiaMyeloproliferative neoplasmsPolycythemia veraPrimary myelofibrosis

rs10974944

Key Literature Trait Associations

Myeloproliferative Neoplasm Susceptibility

Research that mentions this SNP (1)

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