rs9937053

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.

body mass index

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.07
p —
N 806,834
Meta-analysisLarge GWAS
European

coffee consumption measurement

Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele A
OR 0.01
p 2.0e-21
N 335,909
Large GWAS
European

obstructive sleep apnea

Strausz S et al. “Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health.” The European Respiratory Journal 57(5) (2021)
Allele A
OR 1.09
p 3.0e-9
N 217,955
Large GWAS
multi-ancestry

Antithrombotic agent use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 5.0e-9
N 332,365
Large GWAS
multi-ancestry

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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