rs11650182
This is a downstream gene variant variant in the SKAP1 gene.
▶GWAS Catalog Trait Associations (25)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (25)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cholesterol to total lipids in large HDL percentage
cholesteryl esters to total lipids in large HDL percentage
phospholipids:total lipids ratio
total lipids in large HDL
cholesterol to total lipids in medium HDL percentage
triglycerides to phosphoglycerides ratio
cholesteryl esters in large HDL measurement
cholesterol in large HDL measurement
cholesteryl ester measurement
triglycerides in small HDL measurement
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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