rs16953002

This variant is located in the FTO gene.

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GWAS Catalog Trait Associations (2)

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

hair color

Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)
Allele A
OR 1.19
p 3.0e-13
N 299,651
Major Consortium StudyLarge GWAS
European

melanoma

Iles MM et al. “A variant in FTO shows association with melanoma risk not due to BMI.” Nature Genetics 45(4):428-32, 432e1 (2013)
Allele A
OR 1.16
p 4.0e-12
N 4,919
Large GWAS
European
Ransohoff KJ et al. “Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.” Oncotarget 8(11):17586-17592 (2017)
Allele A
OR 1.16
p 4.0e-12
N 291,407
Large GWAS
European
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Research that mentions this SNP (1)

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IRF4 rs12203592 functional variant and melanoma survival
Meta-analysisN=140,000Miriam Potrony et al.(2017)· International Journal of Cancer

Genome-wide association meta-analysis of cutaneous melanoma combining pathologically confirmed cases with 23andMe self-reported cases identified 54 genome-wide significant loci. The study confirmed 19 of 21 previously reported loci, revealed complex LD structure at the AHR/AGR3 region (rs117132860, p=3.8×10−21), and identified novel associations including those near MFSD12/FZR1. Key variants included rs12215602 (IRF4), rs16953002 and rs62034121 (FTO), and variants associated with pigmentation phenotypes (hair color, nevus count, sunburn susceptibility).

Traits studied:Childhood sunburnsCutaneous melanomaEase of tanningMelanoma histological subtypes (superficial spreading, nodular, lentigo maligna, acral)Melanoma susceptibilityNevus countPigmentation traits (hair color, skin color, eye color)Telomere length
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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