rs182529846

This is a regulatory region variant variant in the HHEX gene.

GWAS Catalog Trait Associations (1)

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

mixed connective tissue disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 4.03
p 5.0e-14
N 572,623
Major Consortium StudyLarge GWAS
multi-ancestry

About HHEX

This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]

View all HHEX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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