rs6142351

This is a intron variant variant in the UQCC1 gene.

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GWAS Catalog Trait Associations (1)

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

BMI-adjusted waist-hip ratio, forced expiratory volume

Zhu Z et al. “A large-scale genome-wide association analysis of lung function in the Chinese population identifies novel loci and highlights shared genetic aetiology with obesity.” The European Respiratory Journal 58(4) (2021)

Allele G

OR —

p 5.0e-16

N 100,285

Large GWAS

multi-ancestry

About UQCC1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

View all UQCC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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