rs1230666

This is a intron variant variant in the MAGI3 gene.

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GWAS Catalog Trait Associations (7)

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

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele A
OR 1.05
p 5.0e-13
N 1,165,690
Large GWAS
European, NR

heart failure

Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)
Allele A
OR 0.04
p 9.0e-12
N 2,358,556
Large GWAS
multi-ancestry
Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)
Allele A
OR 5.78
p 7.0e-9
N 762,151
Large GWAS
European

aging

Rosoff DB et al. “Multivariate genome-wide analysis of aging-related traits identifies novel loci and new drug targets for healthy aging.” Nature Aging 3(8):1020-1035 (2023)
Allele A
OR 0.01
p 2.0e-11
N 1,559,001
Large GWAS
European

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele G
OR 0.06
p 4.0e-10
N 139,274
Large GWAS
multi-ancestry

healthspan, parental longevity, life span determination trait

Timmers PRHJ et al. “Multivariate genomic scan implicates novel loci and haem metabolism in human ageing.” Nature Communications 11(1):3570 (2020)
Allele G
OR —
p 2.0e-9
N 837,415
Large GWAS
European

blood immunoglobulin amount

Medici M et al. “Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.” Plos Genetics 10(2):e1004123 (2014)
Allele A
OR 0.03
p 2.0e-8
N 12,353
Large GWAS
European
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Research that mentions this SNP (1)

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Thyroid‐associated genetic polymorphisms in relation to breast cancer risk in the Malmö Diet and Cancer Study
AssociationN=4,058Jasmine Brandt et al.(2018)· International Journal of Cancer

This prospective nested case-control study examined 17 single nucleotide polymorphisms related to free thyroxine (fT4) and thyroid peroxidase antibody (TPO-Ab) levels in 865 breast cancer cases and 3,193 controls from the Malmö Diet and Cancer Study. The main findings identified fT4-related SNPs rs2235544 (DIO1 gene, OR for breast cancer risk in low fT4 women) and rs6485050, as well as TPO-Ab-related SNPs rs11675434, rs3094228, rs1033662, rs301806, and rs2071403 as potentially associated with breast cancer risk. The most promising association was rs2235544 (DIO1), where the C allele was associated with lower fT4 levels and increased breast cancer risk, particularly in women with low fT4 levels, suggesting a potential causal relationship.

Traits studied:Breast cancer riskFree thyroxine (fT4) levelsThyroid peroxidase antibodies (TPO-Ab)
PubMedDOIMetascience Observatory

About MAGI3

Predicted to enable frizzled binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within positive regulation of JUN kinase activity. Located in cell junction. [provided by Alliance of Genome Resources, Apr 2025]

View all MAGI3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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