Stickler syndrome can present with a high degree of inter and intra-familial variability and as such it may be of benefit to assess whether the possession of the low expressing T-allele of rs1676486, which we have shown is functionally active in cartilage and which has a frequency of >20% in Europeans and Asians, correlates in any way with this phenotypic heterogeneity; possessing a low expressing COL11A1 allele alongside a mutant allele may exacerbate the phenotype whilst if the mutant COL11A1 allele is on a low-expressing allele then this could attenuate the phenotype. The gene discussed is COL11A1; the disease is Stickler syndrome.