rs1847472

This is a intron variant variant in the BACH2 gene.

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GWAS Catalog Trait Associations (3)

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

mean corpuscular hemoglobin

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-18
N 394,642
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.09
p 1.0e-10
N 20,883
Large GWAS
multi-ancestry
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele G
OR 1.07
p 5.0e-9
N 21,389
Meta-analysisLarge GWAS
European

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele C
OR 1.06
p 2.0e-10
N 34,366
Large GWAS
European
Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele C
OR 1.07
p 7.0e-10
N 34,652
Large GWAS
multi-ancestry
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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
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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