JAK2, variants, traits, and what the research shows

JAK2 - what this gene does

Variants catalogued in JAK2 (Janus kinase 2, located on chromosome 9p24.1) appear in research across two broad trait themes: cancer and rare disease. The available variant metadata does not include detailed functional descriptions, so the gene's specific biological role cannot be characterized here beyond those trait associations.

Key takeaways

• JAK2 has 224 catalogued variants spanning both cancer and rare disease trait categories.
• The highest-magnitude variants on file score 5.50, a tier split between cancer and rare disease signals.
• Multiple independent variants across both categories appear in the dataset, consistent with a gene studied in both oncology and rare-disease research.
• One JAK2 variant has a dedicated encyclopedia page with a confirmed cancer association.
• All associations are population-level statistical signals from genetic studies, not individual health predictions.

Notable variants

The six cancer-associated variants at the highest magnitude tier (5.50) are rs121912472, rs139504737, rs143103233, rs182123615, rs372254348, and rs529050943. Sharing that tier, rare-disease-associated variants include rs1299892808, rs138655335, rs143227399, rs2230723, and rs892216772, among others at the same magnitude level. At magnitude 5.00, two additional rare-disease variants are on file: rs1486560342 and rs2488857097. Two cancer-associated variants sit at magnitude 4.50: rs10974944, which has a dedicated published research page in this encyclopedia, and rs1327494.

Trait associations

This gene appears in two research domains. Cancer associations are represented by eight variants in this dataset: rs121912472, rs139504737, rs143103233, rs182123615, rs372254348, rs529050943, rs10974944, and rs1327494. Rare disease associations are represented by twelve variants: rs1299892808, rs138655335, rs142269166, rs1426814242, rs143227399, rs150159583, rs2230723, rs368927897, rs533264615, rs892216772, rs1486560342, and rs2488857097. The presence of multiple independent variants in both categories is consistent with a gene that features in both oncology (cancer research) and rare-disease genetics literature.

Evidence quality

A total of 224 variants are on file for this gene, with 18 carrying prior research summaries; the current dataset surfaces the top 20 by magnitude. The one variant with a dedicated published page, rs10974944, is tagged as cancer-associated at magnitude 4.50, but its editorial summary has not yet been populated in this dataset. Specific effect sizes, odds ratios (a measure of how much a variant changes the statistical likelihood of a trait), cohort sizes, and replication status are not available in the current variant metadata. Without those details it is not possible to rank the relative strength of individual associations or confirm cross-cohort replication. All associations here should be treated as catalogue-level signals pending full annotation in the primary literature.

What this is NOT

The associations described here are population-level statistical signals from genetic research, not deterministic predictions about any individual's health outcomes. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.