rs4911494

This is a variant in the UQCC1 gene that changes a arginine to an glutamine.

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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

Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)

Allele T

OR 0.02

p 2.0e-16

N 344,369

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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A genome‐wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

AssociationN=53,938Hanneke J. M. Kerkhof et al.(2010)· Arthritis & Rheumatism

Genome-wide association study identifying 14,938 osteoarthritis cases and approximately 39,000 controls found that the C-allele of rs3815148 on chromosome 7q22 (near GPR22 gene) is associated with 1.14-fold increased risk of knee/hand OA (p=8×10⁻⁸) and 30% increased risk for knee OA progression. The same study identified rs10248619 and rs6088813 with secondary associations to OA.

Traits studied:Hand osteoarthritisHip osteoarthritisKnee osteoarthritisKnee osteoarthritis progressionOsteoarthritis

PubMed DOI Metascience Observatory

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]