rs9936385

This is a regulatory region 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.

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele T
OR 0.02
p 1.0e-21
N 454,183
Meta-analysisLarge GWAS
European

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele T
OR 0.09
p 3.0e-8
N 107,230
Large GWAS
East Asian

body mass index

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele C
OR —
β 0.073
p 1.0e-97
N 197,610
Large GWAS
European

type 2 diabetes mellitus

Wood AR et al. “Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.” Diabetologia 59(6):1214-21 (2016)
Allele C
OR 1.15
p 1.0e-9
N 117,775
Large GWAS
European
Mahajan A et al. “Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.” Nature Genetics 46(3):234-44 (2014)
Allele C
OR 1.13
p 1.0e-12
N 110,452
Meta-analysisLarge GWAS
multi-ancestry
Morris AP et al. “Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes” Nature Genetics (2012)
Allele C
OR 1.12
p 6.0e-11
N 69,033
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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