rs2248393
This is a intron variant variant in the UQCC1 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.
body height
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.05
p 1.0e-300
N 405,540
Large GWAS
European
osteoarthritis
Tachmazidou I et al. “Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.” Nature Genetics 51(2):230-236 (2019)
Allele C
OR 1.04
p 4.0e-14
N 455,221
Major Consortium StudyLarge GWAS
European
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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