rs875622

This is a intron variant variant in the EPS15L1 gene.

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GWAS Catalog Trait Associations (6)

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

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 2.0e-54
N 381,099
Major Consortium StudyLarge GWAS
European

neutrophil percentage of leukocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.06
p 2.0e-39
N 171,542
Large GWAS
European

C-X-C motif chemokine 16 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 6.0e-29
N 47,745
Large GWAS
European

lymphotactin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-14
N 47,745
Large GWAS
European

lymphocyte count

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.07
p 8.0e-13
N 38,000
Large GWAS
South Asian
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 9.0e-13
N 40,768
Major Consortium StudyLarge GWAS
Hispanic or Latin American

About EPS15L1

Enables cadherin binding activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane. [provided by Alliance of Genome Resources, Apr 2025]

View all EPS15L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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