rs7206790

This is a intron variant variant in the FTO gene.

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GWAS Catalog Trait Associations (3)

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

waist circumference

Lind L et al. “Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank.” Metabolic Syndrome and Related Disorders 18(3):121-127 (2020)
Allele G
OR 0.62
p 1.0e-25
N 291,107
Large GWAS
European

urolithiasis

Tanikawa C et al. “Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.” Journal of the American Society of Nephrology : Jasn 30(5):855-864 (2019)
Allele G
OR 1.12
p 1.0e-9
N 198,769
Large GWAS
East Asian

diabetes mellitus

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele G
OR 0.00
p 7.0e-9
N 283,227
Major Consortium StudyLarge 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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