TAFA2, variants, traits, and what the research shows

TAFA2 - what this gene does

TAFA2 is a human gene whose catalogued variants are statistically linked to at least six trait domains: neurological conditions, cancer, metabolic phenotypes, rare diseases, respiratory health, and mental health. The specific biological mechanisms connecting this gene to each of these domains are not fully characterized in the available data.

Key takeaways

• TAFA2 has 82 catalogued variants, with the strongest signals linked to neurological conditions, cancer, metabolic traits, and rare disease.
• Two independent variants are both associated with cancer, providing cross-variant consistency in that domain.
• Three separate variants link this gene to respiratory health, making it a notable mid-tier association.
• All associations are population-level statistical signals and do not predict outcomes for any individual.
• The evidence base is still developing; independent replication is needed to confirm most signals.

Notable variants

The highest-magnitude signals (all scoring 4.50) anchor the strongest statistical associations in this dataset. rs10784285 is linked to a neurological trait, while rs112769843 and rs142587589 are both associated with cancer - the presence of two independent variants flagging the same domain provides modest cross-variant consistency. rs17125610 flags a metabolic trait and rs535733797 a rare disease at the same magnitude tier. Among mid-range signals, rs1031582 adds a second metabolic association (magnitude 2.20) and rs11174202 flags a mental health trait.

Trait associations

The variant data connects this gene to at least six trait domains. Neurological associations are represented by rs10784285. Cancer associations are carried by two variants - rs112769843 and rs142587589 - providing cross-variant consistency within that domain. Metabolic traits appear at both high and mid magnitude: rs17125610 (magnitude 4.50) and rs1031582 (magnitude 2.20). Respiratory health is flagged by three variants - rs1009168, rs10784281, and rs10877792 - making it the most numerically represented mid-tier domain. Mental health is linked to rs11174202, immune function to rs4348998, and a rare disease to rs535733797.

Evidence quality

This gene's top-tier variants reach a magnitude score of 4.50, representing the strongest statistical candidates in the current dataset; however, specific effect sizes - such as odds ratios (how much a variant shifts the statistical likelihood of a trait across a population) or beta coefficients - sample sizes, and independent replication details are not available in the variant metadata on file. The three respiratory variants cluster at magnitude 2.20 alongside the mental health and metabolic mid-range signals; these should be treated as preliminary until confirmed in independent cohorts. Of 82 total variants, 27 have prior research summaries, reflecting a moderately characterized but still-developing evidence base. The breadth of trait themes may reflect genuine pleiotropy (when a single gene influences multiple biological processes) or may partly stem from unresolved linkage disequilibrium (when a catalogued variant is statistically correlated with a nearby causal variant rather than being causal itself) - both possibilities warrant further fine-mapping.

What this is NOT

All variants described here are population-level statistical associations from GWAS (genome-wide association studies - research that scans the genomes of large populations for variants statistically linked to a trait) and are not deterministic predictors of any disease or health outcome for any individual. This content is purely informational; we do not prescribe, diagnose, or advise on any medical or health-related decision.