rs189640071
This is a splice region variant variant in the EFCAB11 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.
N-acetylcarnosine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.49
p 1.0e-12
N 8,809
Large GWAS
European
About EFCAB11
Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all EFCAB11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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