rs556131763
This variant is located in the PBLD 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.
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 G
OR 3.88
p 4.0e-11
N 572,623
Major Consortium StudyLarge GWAS
multi-ancestry
About PBLD
Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all PBLD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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