rs181737795

This is a intron variant variant in the BACH2 gene.

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GWAS Catalog Trait Associations (1)

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

Cleft palate, cleft lip

Alade A et al. “Shared genetic risk between major orofacial cleft phenotypes in an African population.” Genetic Epidemiology 48(6):258-269 (2024)

Allele G

OR —

p 3.0e-8

N 3,178

Large GWAS

Sub-Saharan African

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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