rs9930333

This is a intron variant variant in the FTO gene.

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GWAS Catalog Trait Associations (8)

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

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.03
p 3.0e-128
N 337,739
Large GWAS
European

physical activity measurement, body mass index

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele G
OR 0.08
p 1.0e-103
N 161,368
Meta-analysisLarge GWAS
multi-ancestry

obese body mass index status

Riveros-McKay F et al. “Genetic architecture of human thinness compared to severe obesity.” Plos Genetics 15(1):e1007603 (2019)
Allele G
OR 1.48
p 9.0e-76
N 2,927
Large GWAS
European

body mass index

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele G
OR 0.07
p 5.0e-72
N 123,097
Meta-analysisLarge GWAS
multi-ancestry

osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.95
p 8.0e-38
N 1,316,500
Large GWAS
multi-ancestry

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.97
p 2.0e-24
N 1,962,069
Large GWAS
multi-ancestry

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele G
OR 0.02
p 1.0e-11
N 235,096
Large GWAS
European

osteoarthritis, hip, osteoarthritis, knee

Tachmazidou I et al. “Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.” Nature Genetics 51(2):230-236 (2019)
Allele G
OR 1.05
p 2.0e-9
N 417,596
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Genome‐wide interaction study of single‐nucleotide polymorphisms and alcohol consumption on blood pressure: The Ansan and Ansung study of the Korean Genome and Epidemiology Study (KoGES)
ReviewYoungjun Kim et al.(2020)· Genetic Epidemiology

This is a comprehensive review of gene-environment interactions in hypertension, summarizing recent research on how genetic variants interact with lifestyle factors (diet, alcohol, smoking, obesity, physical activity) to influence blood pressure regulation. The paper discusses key genetic variants including GNB3-C825T, BCL11B-rs8022678, NOS3-rs1799983, CYP4A11 variants, and FTO-rs9930333, and recommends lifestyle modifications and selective genetic testing for hypertension management in community healthcare settings.

Traits studied:Blood pressureDiastolic pressureHypertensionMetabolic syndromeSalt sensitivitySystolic pressure
PubMedDOIMetascience Observatory

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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