rs62378114
This is a regulatory region variant variant in the AFAP1L1 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.
forced expiratory volume
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele A
OR 9.20
p 4.0e-20
N 588,452
Large GWAS
multi-ancestry
About AFAP1L1
Predicted to be located in several cellular components, including actin cytoskeleton; anchoring junction; and cell projection. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
View all AFAP1L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…