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rs12343867

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 V617F-associated MPNs
(T;T) 0 common/normal
ReferenceGRCh37 37.1/131
Chromosome9
Position5074189
GeneJAK2
is asnp
is mentioned by
dbSNPrs12343867
ebirs12343867
HLIrs12343867
Exacrs12343867
Varsomers12343867
Maprs12343867
PheGenIrs12343867
hapmaprs12343867
1000 genomesrs12343867
hgdprs12343867
ensemblrs12343867
gopubmedrs12343867
geneviewrs12343867
scholarrs12343867
googlers12343867
pharmgkbrs12343867
gwascentralrs12343867
openSNPrs12343867
23andMers12343867
23andMe allrs12343867
SNP Nexus

SNPshotrs12343867
SNPdbers12343867
MSV3drs12343867
GWAS Ctlgrs12343867
GMAF0.2576
Max Magnitude3
? (C;C) (C;T) (T;T) 28
OMIM147796
DescJANUS KINASE 2; JAK2
Variant
Relatedalso


[PMID 19847199] JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival

[PMID 21791467OA-icon.png] The prognostic impact of germline 46/1 haplotype of Janus kinase 2 in cytogenetically normal acute myeloid leukemia

[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 19847198] The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients.

[PMID 19922437] The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study.

[PMID 21173100OA-icon.png] The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.

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

[PMID 21364191] The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis.

[PMID 21497883] Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.

[PMID 23188718] The influence of novel transcriptional regulatory element in intron 14 on the expression of Janus kinase 2 gene in myeloproliferative neoplasms

[PMID 23845539] The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis

[PMID 26487696] Co-occurrence of myeloproliferative neoplasms and solid tumors is attributed to a synergism between cytoreductive therapy and the common TERT polymorphism rs2736100