rs183657985

This variant is located in the EXOC3L2 gene.

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GWAS Catalog Trait Associations (2)

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

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.02

p 8.0e-12

N 408,112

Large GWAS

European

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)

Allele T

OR 1.04

p 2.0e-10

N 1,165,690

Large GWAS

European, NR

About EXOC3L2

The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]

View all EXOC3L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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