rs75214378
This is a intron variant variant in the C2orf69 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of uroporphyrinogen decarboxylase 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 A
OR 0.12
p 4.0e-19
N 47,745
Large GWAS
European
alcohol consumption quality
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 3.0e-9
N 2,428,851
Large GWAS
European
About C2orf69
Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jul 2025]
View all C2orf69 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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