rs353538
This variant is located in the AIF1L 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.
protein measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.40
p 9.0e-210
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.23
p 2.0e-22
N 2,721
Large GWAS
European
About AIF1L
Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin filament and focal adhesion. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]
View all AIF1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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