rs17817712

This is a intron variant variant in the FTO gene.

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GWAS Catalog Trait Associations (4)

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

cellulitis, abscess

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 A
OR 0.06
p 1.0e-23
N 568,267
Major Consortium StudyLarge GWAS
multi-ancestry

psoriasis, type 2 diabetes mellitus

Patrick MT et al. “Causal Relationship and Shared Genetic Loci between Psoriasis and Type 2 Diabetes through Trans-Disease Meta-Analysis.” The Journal of Investigative Dermatology 141(6):1493-1502 (2021)
Allele G
OR 1.06
p 2.0e-9
N 925,490
Meta-analysisLarge GWAS
European

body mass index

Pei YF et al. “Bivariate genome-wide association analysis identified three pleiotropic loci underlying osteoporosis and obesity.” Clinical Genetics 97(5):785-786 (2020)
Allele G
OR 0.08
p 3.0e-10
N 14,489
Large GWAS

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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