rs62006947
This variant is located in the EXOC3L4 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet volume
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.08
p 2.0e-259
N 460,935
Large GWAS
European
platelet quantity
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.07
p 2.0e-18
N 36,615
Large GWAS
European
immature platelet measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.07
p 1.0e-17
N 36,829
Large GWAS
European
immature platelet count
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.06
p 2.0e-11
N 36,618
Large GWAS
European
About EXOC3L4
Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Jul 2025]
View all EXOC3L4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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