rs10944479

This is a intron variant variant in the BACH2 gene.

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GWAS Catalog Trait Associations (4)

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

hypothyroidism

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 A
OR 1.15
p 8.0e-41
N 691,986
Large GWAS
European

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele G
OR 0.09
p 5.0e-13
N 718,496
Large GWAS
multi-ancestry

cutaneous squamous cell carcinoma

Sarin KY et al. “Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 11(1):820 (2020)
Allele A
OR 0.09
p 4.0e-9
N 699,198
Meta-analysisLarge 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 1.25
p 4.0e-8
N 18,297
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 BACH2

Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Jul 2025]

View all BACH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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