rs1014971

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (1)

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

urinary bladder carcinoma

Figueroa JD et al. “Genome-wide association study identifies multiple loci associated with bladder cancer risk.” Human Molecular Genetics 23(5):1387-98 (2014)
Allele T
OR 1.13
p 1.0e-11
N 6,206
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic polymorphisms on 8q24.1 and 4p16.3 are not linked with urothelial carcinoma of the bladder in contrast to their association with aggressive upper urinary tract tumours
AssociationN=492David R. Yates et al.(2013)· World Journal of Urology

This case-control study of 231 bladder urothelial carcinoma (UC) patients and 261 benign controls found that rs9642880[T] and rs798766[T] variants increase bladder-UC risk (OR=1.72, p=0.028 and OR=1.84, p=0.01 respectively), but unlike upper tract UC, these variants are not associated with disease aggressiveness (grade or stage). The findings highlight distinct genetic differences between bladder-UC and upper urinary tract urothelial carcinoma.

Traits studied:Bladder urothelial carcinomaTumor aggressivenessTumor gradeTumor stageUpper urinary tract urothelial carcinoma
PubMedDOIMetascience Observatory
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The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) gene
AssociationN=486Mohammad Reza Safarinejad et al.(2011)· Archives of Toxicology

This Iranian case-control study examined the association between the IGFBP-3 A-202C polymorphism (rs2854744) and bladder cancer risk in 162 cancer patients and 324 controls. The study found that the AA genotype was protective against bladder cancer (OR=0.48, 95% CI 0.24-0.64, P=0.001) while the AC genotype increased risk (OR=1.76, 95% CI 1.27-2.84, P=0.038). The protective effect of the AA genotype was more pronounced in advanced bladder cancers, with no AA genotype carriers having high-grade tumors.

Traits studied:Bladder cancerTransitional cell carcinoma
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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