rs794085

This variant is located in the PET100 gene.

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GWAS Catalog Trait Associations (1)

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

mast cell-expressed membrane protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.12

p 3.0e-80

N 47,745

Large GWAS

European

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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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Comprehensive pathway‐based interrogation of genetic variations in the nucleotide excision DNA repair pathway and risk of bladder cancer

AssociationN=1,606Jinliang Xing et al.(2012)· Cancer

A comprehensive pathway-based case-control study of 803 bladder cancer cases and 803 controls evaluating 207 SNPs in 26 nucleotide excision repair (NER) pathway genes. Seventeen SNPs were significantly associated with bladder cancer risk at P<0.05, with seven retaining noteworthiness by Bayesian false discovery probability. The most significant finding was rs11132186 in ING2 (OR=0.52, 95% CI 0.32-0.83, P=0.005). Four ING2 variants and two DDB2 variants were significantly associated with altered bladder cancer risk, with evidence for gene-smoking and gene-gene interactions.

Traits studied:Bladder cancer

PubMed DOI Metascience Observatory

About PET100

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]