{{Rsnum
|rsid=10974944
|Gene=JAK2
|Chromosome=9
|position=5070831
|Orientation=plus
|GMAF=0.2567
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 46.9 | 45.1 | 8.0
| HCB | 56.9 | 35.8 | 7.3
| JPT | 54.9 | 38.9 | 6.2
| YRI | 72.1 | 27.9 | 0.0
| ASW | 61.4 | 36.8 | 1.8
| CHB | 56.9 | 35.8 | 7.3
| CHD | 51.4 | 45.0 | 3.7
| GIH | 61.6 | 32.3 | 6.1
| LWK | 66.1 | 29.4 | 4.6
| MEX | 37.9 | 53.4 | 8.6
| MKK | 53.2 | 43.5 | 3.2
| TSI | 49.0 | 45.1 | 5.9
| HapMapRevision=28
}}

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]]


{{PMID Auto
|PMID=19287384
|Title=A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|OA=1
}}

{{omim
|desc=JANUS KINASE 2; JAK2
|id=147796
|rsnum=10974944
}}

{{PharmGKB
|RSID=rs10974944
|Name_s=
|Gene_s=JAK2
|Feature=
|Evidence=PubMed ID:19287384; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. (Initial Sample Size: 324 cases, 2,999 controls; Replication Sample Size: NR); (Region: 9p24.1; Reported Gene(s): JAK2); (p-value= 4E-20).This variant is associated with Myeloproliferative neoplasms.
|Drugs=
|Drug Classes=
|Diseases=Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739924
}}

{{PMID Auto
|PMID=20422415
|Title=The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
}}

[http://www.youtube.com/watch?v=PsPgexubTQ4 Video about this mutation]

{{PMID Auto
|PMID=22251709
|Title=The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
|OA=1
}}

{{PMID Auto
|PMID=20016140
|Title=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 Auto
|PMID=21173100
|Title=The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.
|OA=1
}}

{{PMID Auto
|PMID=21281225
|Title=JAK2V617F mutation is associated with special alleles in essential thrombocythemia.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10974944
|overall_frequency_n=26
|overall_frequency_d=128
|overall_frequency=0.203125
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23420150
|Title=Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
|OA=1
}}

{{PMID Auto
|PMID=23845539
|Title=The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis
}}

{{PMID Auto
|PMID=23116358
|Title=Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population.
}}

{{PMID Auto
|PMID=23430670
|Title=JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}