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rs12340895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(C;G) 2.5 Increased odds (2 fold?) of developing V617F-positive MPN
(G;G) 3.5 2 - 4 fold increased odds of developing V617F-positive MPN
ReferenceGRCh37 37.1/131
Chromosome9
Position5076691
GeneJAK2
is asnp
is mentioned by
dbSNPrs12340895
ebirs12340895
HLIrs12340895
Exacrs12340895
Varsomers12340895
Maprs12340895
PheGenIrs12340895
hapmaprs12340895
1000 genomesrs12340895
hgdprs12340895
ensemblrs12340895
gopubmedrs12340895
geneviewrs12340895
scholarrs12340895
googlers12340895
pharmgkbrs12340895
gwascentralrs12340895
openSNPrs12340895
23andMers12340895
23andMe allrs12340895
SNP Nexus

SNPshotrs12340895
SNPdbers12340895
MSV3drs12340895
GWAS Ctlgrs12340895
GMAF0.2489
Max Magnitude3.5
? (C;C) (C;G) (G;G) 28
OMIM147796
DescJANUS KINASE 2; JAK2
Variant
Relatedalso

23andMe blog People with a 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. People with an 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.


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


[PMID 21281225] JAK2V617F mutation is associated with special alleles in essential thrombocythemia.


[PMID 23054641] The JAK2 46/1 haplotype is a risk factor for myeloproliferative neoplasms in Chinese patients