rs11755527
This is a intron variant variant in the BACH2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 1 diabetes mellitus
▶Research that mentions this SNP (2)
▶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.
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