rs67446770

This is a upstream gene variant variant in the SKAP1 gene.

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GWAS Catalog Trait Associations (1)

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

endometriosis

Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)

Allele A

OR 0.02

p 8.0e-10

N 217,530

Large GWAS

European

About SKAP1

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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