rs4911180

This is a intron variant variant in the UQCC1 gene.

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GWAS Catalog Trait Associations (4)

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

alpha angle measurement

Faber BG et al. “A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults.” Arthritis & Rheumatology (hoboken, N.j.) 75(6):900-909 (2023)
Allele A
OR —
β 0.040
p 1.0e-11
N 44,214
Meta-analysisLarge GWAS
European

BMI-adjusted waist-hip ratio

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele A
OR —
β 0.020
p 3.0e-9
N 252,375
Large GWAS
European

BMI-adjusted waist-hip ratio, physical activity measurement

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele A
OR 0.02
p 2.0e-8
N 156,653
Meta-analysisLarge 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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