TOMM40, variants, traits, and what the research shows

TOMM40 - what this gene does

The variants catalogued for TOMM40 connect to four broad health domains: metabolic conditions, kidney function, neurological traits, and cardiovascular traits. Because detailed functional summaries for most variants are still being compiled, the sections below map the trait landscape the current variant set covers.

Key takeaways

• Variants in this gene span four health domains: metabolic, kidney, neurological, and cardiovascular.
• Six of the ten highest-evidenced variants cluster around metabolic traits, the most represented category in this dataset.
• Two of the ten highest-evidenced variants connect to neurological traits.
• All associations in this dataset come from GWAS (genome-wide association studies - large scans of many people's genomes for variants statistically linked to a trait) and similar population-level research.
• These are statistical signals across populations, not health predictions for any individual.

Notable variants

Ten variants share the highest magnitude score in this dataset (4.50), covering all four trait themes. Six are linked to metabolic traits: rs1038026, rs141864196, rs157580, rs71352238, rs76692773, and rs8106922. Neurological associations are carried by rs142412517 and rs561654715. rs1160984 maps to kidney traits, and rs157582 to cardiovascular traits.

Trait associations

Metabolic traits are the most consistently represented domain at the top evidence tier, with six variants clustering there - multiple variants sharing a trait category strengthens the case for a genuine signal rather than a statistical outlier. The neurological pairing of rs142412517 and rs561654715 is consistent within this dataset, though the specific conditions and effect sizes require review of the individual variant pages. Kidney function - linked through rs1160984 - and cardiovascular traits - linked through rs157582 - each rest on a single top-tier variant at this stage, making those signals less reinforced by redundant evidence.

Evidence quality

The ten variants at magnitude 4.50 represent the strongest signals detailed in this dataset. Two of them - rs1038026 and rs1160984 - have published editorial pages, indicating a more complete evidence review for those entries. A further 10 variants in the current listing carry a magnitude 3.00 score without trait annotations, and 65 additional variants round out the 85 total on file for this gene. Specific effect sizes, sample sizes, and replication status for individual variants are described on their respective pages; as with any GWAS-derived signal, findings from single cohorts should be treated as preliminary until replicated in independent populations.

What this is NOT

These variants are population-level statistical signals from studies of large groups of people; they are not deterministic predictors of any individual's traits, conditions, or health outcomes. This page does not prescribe, diagnose, or advise any course of action.