{{Rsnum
|rsid=3780374
|Gene=JAK2
|Chromosome=9
|position=5099677
|Orientation=plus
|GMAF=0.2511
|Gene_s=JAK2
|Assembly=GRCh37.p5
|GenomeBuild=37.3
|dbSNPBuild=135
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.8 | 46.9 | 44.2
| HCB | 6.6 | 32.8 | 60.6
| JPT | 6.2 | 38.1 | 55.8
| YRI | 0.0 | 22.4 | 77.6
| ASW | 0.0 | 26.3 | 73.7
| CHB | 6.6 | 32.8 | 60.6
| CHD | 3.7 | 41.3 | 55.0
| GIH | 5.9 | 34.7 | 59.4
| LWK | 3.6 | 16.4 | 80.0
| MEX | 10.3 | 53.4 | 36.2
| MKK | 3.2 | 32.7 | 64.1
| TSI | 5.9 | 44.1 | 50.0
| HapMapRevision=28
}}[http://blog.23andme.com/2012/03/05/snpwatch-the-jist-on-jak2-and-myeloproliferative-neoplasms/ 23andMe blog]
At rs12340895(G) (equivalent to rs12343867 in the study) had nearly four times higher odds of developing V617F-positive [[myelofibrosis]] (MPN) compared to people without the disease. 23andMe recently replicated this association, though we see a smaller effect — in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. n A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version.

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]]


For results applicable to those with Asian ancestry, use rs3780374. For results applicable to those with European ancestry, use rs12340895

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}