FTO, variants, traits, and what the research shows

FTO is a human gene with variants linked to rare diseases, metabolic conditions, immune function, cardiovascular health, sleep, and mental health traits.

High-magnitude variants on file
356
With published research summary
36
Trait themes
4

FTO - what this gene does

Based on the variants catalogued here, this gene - FTO - shows associations across a wide range of trait categories: rare disease, metabolic conditions, immune function, cardiovascular health, sleep, mental health, kidney traits, and cancer. Because specific conditions within each category are not detailed in the available data, this entry describes the observed trait themes rather than named diagnoses.

Key takeaways

  • Six variants in this gene reach the highest recorded magnitude scores, all linked to rare disease categories
  • Metabolic trait associations appear at two distinct magnitude levels, suggesting consistent representation across the gene
  • Immune, cardiovascular, sleep, mental health, kidney, and cancer associations are also catalogued
  • All findings are population-level statistical signals - not deterministic predictors for any individual
  • More than 350 total variants are on file, making this a broadly studied gene

Notable variants

The highest-magnitude signals (5.50) come from six rare-disease-linked variants: rs144743617, rs145884431, rs375930208, rs772642133, rs781028867, and rs886052101. Just below them at magnitude 5.00, rs121918214 is also linked to rare disease traits, while rs2078991144 represents the metabolic category at the same tier. Among the magnitude-4.50 variants, rs10521304 has a published research page; rs62033408 is linked to cardiovascular traits; rs62033413 to sleep; rs2042031 to mental health; and rs544022429 to cancer.

Trait associations

Rare disease associations are the most prominently represented trait category, appearing across rs144743617, rs145884431, rs375930208, rs772642133, rs781028867, rs886052101, rs121918214, and rs9937709 - repetition across eight variants strengthens the signal within this category. Metabolic trait links appear at two distinct magnitude levels through rs2078991144 and rs6499640. Immune function is represented by rs16953154 and rs79206939. Single-variant associations also exist for cardiovascular (rs62033408), sleep (rs62033413), mental health (rs2042031), kidney (rs7189997), and cancer (rs544022429).

Evidence quality

The catalogue includes 356 total variants, of which 36 have prior published summaries. The highest-magnitude findings are concentrated in the rare disease category, with six variants sharing a magnitude of 5.50 - a notable clustering. All associations were identified through GWAS (genome-wide association studies - studies that scan many thousands of people's genomes for variants statistically linked to a trait) or similar large-scale analyses. Specific effect sizes (such as odds ratios or beta coefficients), sample sizes, and replication status are not available in the current data for most variants, which limits interpretation. The convergence of all six top-magnitude variants on the rare disease category may reflect a genuine biological signal, but without effect-size details and independent replication counts, this should be treated as preliminary.

What this is NOT

These variants are population-level statistical signals - carrying one or more does not mean any individual will develop an associated condition. This page is informational only; it does not constitute medical advice, diagnosis, or recommendations of any kind.

Traits this gene affects

  • rare_disease
  • metabolic
  • immune

Top variants in FTO

Highest-impact rsids on file, sorted by magnitude. Linked entries have a full research summary; unlinked entries are in the catalog but not yet written up.

rsidMagnitudePrimary trait
rs1447436175.5rare_disease
rs1458844315.5rare_disease
rs3759302085.5rare_disease
rs7726421335.5rare_disease
rs7810288675.5rare_disease
rs8860521015.5rare_disease
rs1219182145.0rare_disease
rs20789911445.0metabolic
rs105213044.5
rs169531544.5immune
rs20420314.5mental_health
rs5440224294.5cancer
rs620334084.5cardiovascular
rs620334134.5sleep
rs64996404.5metabolic
rs71874234.5
rs71899974.5kidney
rs792069394.5immune
rs99248784.5
rs99377094.5rare_disease