rs11876749
This variant is located in the DLGAP1 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.
eyelid functionality
▶Research that mentions this SNP (1)
▶Intrinsic and Extrinsic Risk Factors for Sagging EyelidsAssociationN=6,631Jacobs LC et al.(2014)· JAMA Dermatology
Genome-wide association study of sagging eyelids (dermatochalasis) in 5,578 Rotterdam Study participants and 1,053 TwinsUK twins identified a genome-wide significant protective effect for the C allele of rs11876749 (P=1.7×10⁻⁸) in a recessive model. Risk factors included age, male sex, lighter skin color, and higher BMI. Heritability of sagging eyelids was estimated at 61% in the twin cohort.
About DLGAP1
Predicted to enable molecular adaptor activity. Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in several processes, including aggresome assembly; protein localization to synapse; and regulation of proteasomal protein catabolic process. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Jul 2025]
View all DLGAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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