rs1130335 - ECEL1P2, ECEL1P2, ALPP

Magnitude 2.2 · 1 study on file

Reported associations

• Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia - Unknown journal (n.d.) · Unknown authors · PubMed 35022715

  ABSTRACT: Abstract Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40-69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability >0.5. Of the 1

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