rs3757247

This variant is located in the BACH2 gene.

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GWAS Catalog Trait Associations (2)

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

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 C

OR 0.05

p 4.0e-11

N 718,496

Large GWAS

multi-ancestry

Vitiligo

Jin Y et al. “Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.” Nature Genetics 44(6):676-80 (2012)

Allele A

OR 1.20

p 3.0e-8

N 3,228

Large GWAS

European

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Research that mentions this SNP (1)

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Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study

AssociationN=19,042Wei Liu et al.(2014)· Human Genetics

Three-stage genome-wide association study in 9,285 Chinese Han GD patients and 9,757 controls identifying BACH2 as a susceptibility gene for Graves' disease. rs2474619 in BACH2 intron 2 showed the strongest association with GD (OR=1.13, P=3.28×10⁻⁸). Fine mapping analysis also identified rs9344996 as an independent variant (OR=1.10, P=2.06×10⁻⁵), though rs2474619 remained the primary disease-associated signal.

Traits studied:Autoimmune thyroid diseaseCeliac diseaseCrohn's diseaseGraves' diseaseHashimoto's thyroiditisMultiple sclerosisType 1 diabetesVitiligo

PubMed DOI Metascience 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]