JAZF1, variants, traits, and what the research shows

JAZF1 - what this gene does

Variants in JAZF1 have been catalogued across genome-wide association studies (GWAS - studies that scan many people's genomes for variants statistically associated with a trait) linking this gene to cancer, liver-related traits, immune function, and several additional trait categories. Based on the variants on file, multiple distinct areas of biology appear in the research record.

Key takeaways

• The strongest signals on file connect this gene to cancer, liver function, and immune activity
• Two top-ranked variants are independently linked to liver traits, suggesting a recurring association theme
• A top-ranked immune-associated variant appears alongside a second, lower-magnitude immune signal
• Lower-magnitude variants extend associations to metabolic, nutritional, musculoskeletal, and rare-disease traits
• 154 variants are catalogued at this locus, reflecting substantial research attention

Notable variants

Among the seven variants rated at magnitude 4.50 - the highest score on file - rs11973028 is linked to cancer, rs12154248 and rs6963763 are both linked to liver traits, and rs849142 carries an immune association. Three further magnitude-4.50 variants - rs4722750, rs77301983, and rs916856 - appear in the dataset without an assigned trait label. At the next magnitude tier (2.80), notable entries include rs10254284 (immune), rs13234714 (liver), rs849139 (metabolic), rs4722748 (nutrition), rs73300638 (musculoskeletal), and rs6958010 (rare disease).

Trait associations

The traits most frequently appearing in the ranked variant list are:

• Liver traits: rs12154248 and rs6963763 at magnitude 4.50, plus rs13234714 at magnitude 2.80 - three separate liver-linked variants across the ranked list
• Immune traits: rs849142 at magnitude 4.50 and rs10254284 at magnitude 2.80 - two independent immune signals
• Cancer: rs11973028 at magnitude 4.50
• Metabolic: rs849139 at magnitude 2.80
• Nutritional: rs4722748 at magnitude 2.80
• Musculoskeletal: rs73300638 at magnitude 2.80
• Rare disease: rs6958010 at magnitude 2.80

Evidence quality

The highest-magnitude signals on file reach 4.50, and 154 total variants are catalogued at this locus - a breadth consistent with a gene that has been the subject of multiple research efforts. However, the current dataset does not include specific effect sizes (such as odds ratios or beta coefficients), sample sizes, or replication status for individual variants, making it impossible to rank associations by statistical confidence from this summary alone. The repeated appearance of liver-linked variants at both high and lower magnitudes is the most internally consistent pattern visible in the available data; all other associations should be treated as directional findings pending more detailed review.

What this is NOT

These variants are population-level statistical signals from genetic studies, not deterministic predictors for any individual - effect sizes observed across large cohorts do not translate directly to individual risk. Nothing here constitutes medical advice, a diagnosis, or a recommendation to take any action.