rs11571297

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (5)

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

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele C

OR 0.12

p 5.0e-226

N 2,444,128

Large GWAS

multi-ancestry

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)

Allele C

OR 0.13

p 5.0e-160

N 1,178,661

Large GWAS

European

autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease

Cooper JD et al. “Seven newly identified loci for autoimmune thyroid disease.” Human Molecular Genetics 21(23):5202-8 (2012)

Allele G

OR 1.37

p 2.0e-23

N 12,097

Large GWAS

European

Graves disease

Cooper JD et al. “Seven newly identified loci for autoimmune thyroid disease.” Human Molecular Genetics 21(23):5202-8 (2012)

Allele G

OR 1.40

p 3.0e-23

N 11,649

Large GWAS

European

hyperthyroidism

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)

Allele T

OR 1.20

p 2.0e-22

N 743,008

Large GWAS

European

rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement

Saevarsdottir S et al. “Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.” Annals of the Rheumatic Diseases 81(8):1085-1095 (2022)

Allele C

OR 0.89

p 3.0e-20

N 1,009,623

Large GWAS

European

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Research that mentions this SNP (2)

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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

PubMed DOI Metascience Observatory

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Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes

AssociationN=4,577Bjørnvold M. et al.(2008)· Diabetologia

This Norwegian case-control and family study (1,331 cases, 1,625 controls, 421 trios) examined joint effects of HLA, INS, PTPN22, and CTLA4 on type 1 diabetes risk. The high-risk HLA genotype conferred OR=20.6 compared to neutral-risk HLA. The joint effect of HLA and PTPN22 showed significant negative deviation from multiplicativity (p=0.024), while other gene pairs followed multiplicative models. Combined high/intermediate-risk HLA with risk genotypes at all three non-HLA loci showed joint OR=61, though this genotype combination was rare in the population.

Traits studied:Type 1 diabetes

PubMed DOI Metascience Observatory

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

rs11571297

GWAS Catalog Trait Associations (5)

hypothyroidism

autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease

Graves disease

hyperthyroidism

rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement

Research that mentions this SNP (2)

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