rs11571302

GWAS Catalog Trait Associations (5)

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

programmed cell death protein 1 measurement

Allele T
OR 0.05
p 1.0e-20
N 47,745
Large GWAS
European

level of Ras-related protein Rap-1A in blood

Allele T
OR 0.06
p 2.0e-19
N 47,745
Large GWAS
European

Graves disease

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 G
OR 0.24
p 2.0e-17
N 632,044
Major Consortium StudyLarge GWAS
multi-ancestry

Research that mentions this SNP (1)

Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis?
AssociationN=1,497Marna G. Bouwhuis et al.(2010)· Cancer Immunology, Immunotherapy

This case-control study examined 28 SNPs across CD28, CTLA4, and ICOS genes in 763 German melanoma patients and 734 controls to assess association with melanoma susceptibility and prognosis. While two CD28 polymorphisms (rs3181098 and rs3181100) showed differential allele distribution (OR 1.18, P=0.05 and OR 0.83, P=0.02 respectively), after multiple testing correction no convincing associations with melanoma risk or disease prognosis were detected.

Traits studied:Melanoma prognosisMelanoma susceptibilityMetastasis-free survivalOverall survival

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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