rs1124873 - SLC4A7

Magnitude 2.2 · 1 study on file

Reported associations

• Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis - Unknown journal (n.d.) · Unknown authors · PubMed 35760791

  ABSTRACT: Clinical heterogeneity is common in Mendelian disease, but small sample sizes make it difficult to identify specific contributing factors. However, if a disease represents the severely affected extreme of a spectrum of phenotypic variation, then modifier effects may be apparent within a larger subset of the population. Analyses that take advantage of this full spectrum could have substantially increased power. To test this, we developed cryptic phenotype analysis, a model-based approach that infers quantitative traits that capture disease-related phenotypic variability using qualitative symptom data. By applying this approach to 50 Mendelian diseases in two cohorts, we identify traits that reliably quantify disease severity. We then conduct genome-wide association analyses for fi

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