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rs4495487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3 2 - 4 fold increased odds of developing V617F-associated MPNs
(C;T) 2.5 Increased odds (2 fold?) of developing V617F-associated MPNs
(T;T) 0 common/normal
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position5072798
GeneJAK2
is asnp
is mentioned by
dbSNPrs4495487
ebirs4495487
HLIrs4495487
Exacrs4495487
Varsomers4495487
Maprs4495487
PheGenIrs4495487
hapmaprs4495487
1000 genomesrs4495487
hgdprs4495487
ensemblrs4495487
gopubmedrs4495487
geneviewrs4495487
scholarrs4495487
googlers4495487
pharmgkbrs4495487
gwascentralrs4495487
openSNPrs4495487
23andMers4495487
23andMe allrs4495487
SNP Nexus

SNPshotrs4495487
SNPdbers4495487
MSV3drs4495487
GWAS Ctlgrs4495487
GMAF0.2424
Max Magnitude3
? (C;C) (C;T) (T;T) 28
[PMID 22251709OA-icon.png] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population

23andMe blog At rs12340895(G) (equivalent to rs12343867 in the study) had nearly four times higher odds of developing V617F-positive 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.

[PMID 26557140OA-icon.png] Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China