rs11669915

This is a upstream gene variant variant in the EXOC3L2 gene.

GWAS Catalog Trait Associations (4)

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

eosinophil count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 3.0e-41
N 408,112
Large GWAS
European
Allele G
OR 0.02
p 3.0e-28
N 394,642
Large GWAS
European
Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR
p 2.0e-14
N 234,763
Large GWAS
European

diastolic blood pressure

Allele G
OR 0.15
p 7.0e-18
N 1,028,980
Large GWAS
multi-ancestry

systolic blood pressure

Allele G
OR 0.22
p 4.0e-15
N 1,028,980
Large GWAS
multi-ancestry
Allele G
OR 0.01
p 1.0e-11
N 394,642
Large GWAS
European

wnt inhibitory factor 1 measurement

Allele G
OR 0.04
p 1.0e-11
N 47,745
Large GWAS
European

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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