rs10806425
This is a regulatory region variant variant in the BACH2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Genetic chronic primary adrenal insufficiency
celiac disease
▶Research that mentions this SNP (3)
▶Genetic variants associated with celiac disease and the risk for coronary artery diseaseMeta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics
This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.
▶Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association studyAssociationN=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.
▶Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility lociMeta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology
This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…