rs112588760
This variant is located in the EFCAB5 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.
level of bleomycin hydrolase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.26
p 4.0e-16
N 47,745
Large GWAS
European
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitterAbout EFCAB5
Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]
View all EFCAB5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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