AFF3, variants, traits, and what the research shows

AFF3 - what this gene does

Variants in AFF3 cluster most prominently around rare disease classifications, with additional signals spanning neurological conditions, mental health, vision, liver, and cancer trait categories.

Key takeaways

• The strongest variants in this gene all fall under rare disease categories.
• Neurological and mental health signals each appear across two independent variants.
• Vision, liver, and cancer trait associations are also on record at lower magnitudes.
• 265 variants are catalogued for this gene, 32 with published research summaries.
• These are population-level statistical signals, not individual health predictions.

Notable variants

The highest-magnitude rare disease signals include rs1131692272, rs199884902, rs369314956, and rs369764382 (all magnitude 5.50), with three further rare disease entries at magnitude 5.00: rs1682014084, rs2104734977, and rs2546110253. At magnitude 4.50, mental health associations appear in rs11123816 and rs28425639; neurological associations in rs13001130 and rs13023088; and single-variant signals are recorded for vision (rs13421952), cancer (rs140759215), and liver traits (rs2043711).

Trait associations

Rare disease is the dominant theme in the variant profile: ten magnitude-5.50 variants and three magnitude-5.00 variants - including rs1131692272, rs199884902, rs369314956, rs1682014084, rs2104734977, and rs2546110253, among others - all carry this classification. Neurological traits appear in two independent variants (rs13001130, rs13023088) and mental health in two more (rs11123816, rs28425639), offering some preliminary within-category replication. Vision (rs13421952), cancer (rs140759215), and liver (rs2043711) are each represented by a single variant at magnitude 4.50.

Evidence quality

The rare disease signals at magnitude 5.50 represent the strongest evidence tier on file. Neurological and mental health signals each appear in two independent variants (magnitude 4.50), providing preliminary replication; rs11123816 also has a dedicated published page reflecting prior editorial review. Vision, cancer, and liver associations are single-variant findings - potentially from single cohorts - and should be treated as preliminary until confirmed by independent GWAS (genome-wide association studies - studies that scan many people's genomes for variants statistically linked to a trait) or other replication. Individual effect sizes and sample sizes are not available in the current summary, so the absolute strength of each signal cannot be formally graded.

What this is NOT

These variants are population-level statistical associations observed across large groups - they do not determine any individual's health outcome. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation for any action.