rs10974944
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 2.5 | Increased odds (2 - 4 fold?) of V617F-associated MPNs |
| (G;G) | 3 | 2 - 4 fold increased odds of V617F-associated MPNs |
| Reference | GRCh37 37.1/131 |
| Chromosome | 9 |
| Position | 5070831 |
| Gene | INSL6, JAK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10974944 |
| dbSNP (classic) | rs10974944 |
| ClinGen | rs10974944 |
| ebi | rs10974944 |
| HLI | rs10974944 |
| Exac | rs10974944 |
| Gnomad | rs10974944 |
| Varsome | rs10974944 |
| LitVar | rs10974944 |
| Map | rs10974944 |
| PheGenI | rs10974944 |
| Biobank | rs10974944 |
| 1000 genomes | rs10974944 |
| hgdp | rs10974944 |
| ensembl | rs10974944 |
| geneview | rs10974944 |
| scholar | rs10974944 |
| rs10974944 | |
| pharmgkb | rs10974944 |
| gwascentral | rs10974944 |
| openSNP | rs10974944 |
| 23andMe | rs10974944 |
| SNPshot | rs10974944 |
| SNPdbe | rs10974944 |
| MSV3d | rs10974944 |
| GWAS Ctlg | rs10974944 |
| GMAF | 0.2567 |
| Max Magnitude | 3 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
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 19287384
] A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
[PMID 20422415] The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
[PMID 22251709] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
[PMID 20016140] Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2(V617F).
[PMID 21173100] 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 23420150] Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
[PMID 23845539] The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis
[PMID 23116358] Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population.
[PMID 23430670] JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.
