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rs3780374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.8 Substantially increased odds of developing V617F-positive MPN.
(A;G) 2.5 Substantially increased odds of developing V617F-positive MPN.
(G;G) 0
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position5099677
GeneJAK2
is asnp
is mentioned by
dbSNPrs3780374
ebirs3780374
HLIrs3780374
Exacrs3780374
Varsomers3780374
Maprs3780374
PheGenIrs3780374
hapmaprs3780374
1000 genomesrs3780374
hgdprs3780374
ensemblrs3780374
gopubmedrs3780374
geneviewrs3780374
scholarrs3780374
googlers3780374
pharmgkbrs3780374
gwascentralrs3780374
openSNPrs3780374
23andMers3780374
23andMe allrs3780374
SNP Nexus

SNPshotrs3780374
SNPdbers3780374
MSV3drs3780374
GWAS Ctlgrs3780374
GMAF0.2511
Max Magnitude2.8
? (A;A) (A;G) (G;G) 28
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.


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