rs16955463

This is a regulatory region 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.

generalised epilepsy

“GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.” Nature Genetics 55(9):1471-1482 (2023)

Allele T

OR —

p 2.0e-9

N 59,945

Meta-analysisLarge GWAS

multi-ancestry

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]

View all SKAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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