rs4762641

This variant is located in the CCDC38 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

histidine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.06

p 2.0e-185

N 450,015

Large GWAS

multi-ancestry

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)

Allele T

OR 0.05

p 6.0e-38

N 117,944

Large GWAS

European

About CCDC38

Predicted to enable ubiquitin-modified histone reader activity. Predicted to be involved in acrosome assembly and sperm flagellum assembly. Located in centrosome. [provided by Alliance of Genome Resources, Jul 2025]

View all CCDC38 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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