rs229541

This variant is located in the C1QTNF6 gene.

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GWAS Catalog Trait Associations (3)

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

type 1 diabetes mellitus

Cooper JD et al. “Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.” Nature Genetics 40(12):1399-401 (2008)
Allele T
OR 1.11
p 2.0e-8
N 8,207
Meta-analysis
European
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Research that mentions this SNP (1)

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Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes
AssociationN=10,320Nada M. Saleh et al.(2011)· Diabetes/Metabolism Research and Reviews

This candidate gene association study examined genetic variants in atopic disease and proinflammatory cytokine genes for association with type 1 diabetes in 6,743-10,320 cases and 7,864-9,354 controls. The FLG R501X/rs61816761 (p=0.82), SELS -105/rs28665122 (p=0.08), and IL18 SNPs showed no association with T1D. However, four loci previously associated with asthma also showed significant association with T1D: HLA, GSDMB/ORMDL3/GSDMA (rs2305480, rs3894194, p≤1.2×10⁻⁶), and IL2RB (rs2284033, p=0.005), suggesting shared genetic susceptibility between atopic and autoimmune diseases.

Traits studied:AsthmaAtopic dermatitisAtopyType 1 diabetes
PubMedDOIMetascience Observatory

About C1QTNF6

Enables identical protein binding activity. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

View all C1QTNF6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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