rs56137030

This is a intron variant variant in the FTO gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.04
p 4.0e-28
N 1,840,341
Large GWAS
European

substance-related disorder

Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele A
OR 10.12
p 4.0e-24
N 1,699,295
Large GWAS
multi-ancestry

body mass index

Downie CG et al. “Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects.” Hgg Advances 6(2):100411 (2025)
Allele A
OR 0.06
p 8.0e-20
N 84,840
Large GWAS
multi-ancestry
Ahn Y et al. “Identification of Genetic Variants for Female Obesity and Evaluation of the Causal Role of Genetically Defined Obesity in Polycystic Ovarian Syndrome.” Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy 13:4311-4322 (2020)
Allele A
OR 0.38
p 3.0e-8
N 4,658
Large GWAS
East Asian

drug use measurement, Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 1.0e-16
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 1.08
p 2.0e-13
N 1,195,362
Large GWAS
European

About FTO

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

View all FTO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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